Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication
Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
Remarks: remarks about the individual
Gender: gender individual
All options:
- ? = unknown
- - = not applicable
- F = female
- M = male
- rF = raised as female
- rM = raised as male
Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:
- no = non-consanguineous parents
- yes = consanguineous parents
- likely = consanguinity likely
- ? = unknown
- - = not applicable
Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:
- ? (unknown)
- - (not applicable)
- Afghanistan
- (Afghanistan)
- Albania
- (Albania)
- Algeria
- (Algeria)
- American Samoa
- (American Samoa)
- Andorra
- (Andorra)
- Angola
- (Angola)
- Anguilla
- (Anguilla)
- Antarctica
- (Antarctica)
- Antigua and Barbuda
- (Antigua and Barbuda)
- Argentina
- (Argentina)
- Armenia
- (Armenia)
- Aruba
- (Aruba)
- Australia
- (Australia)
- Austria
- (Austria)
- Azerbaijan
- (Azerbaijan)
- Bahamas
- (Bahamas)
- Bahrain
- (Bahrain)
- Bangladesh
- (Bangladesh)
- Barbados
- (Barbados)
- Belarus
- (Belarus)
- Belgium
- (Belgium)
- Belize
- (Belize)
- Benin
- (Benin)
- Bermuda
- (Bermuda)
- Bhutan
- (Bhutan)
- Bolivia
- (Bolivia)
- Bosnia and Herzegovina
- (Bosnia and Herzegovina)
- Botswana
- (Botswana)
- Bouvet Island
- (Bouvet Island)
- Brazil
- (Brazil)
- British Indian Ocean Territory
- (British Indian Ocean Territory)
- Brunei Darussalam
- (Brunei Darussalam)
- Bulgaria
- (Bulgaria)
- Burkina Faso
- (Burkina Faso)
- Burundi
- (Burundi)
- Cambodia
- (Cambodia)
- Cameroon
- (Cameroon)
- Canada
- (Canada)
- Cape Verde
- (Cape Verde)
- Cayman Islands
- (Cayman Islands)
- Central African Republic
- (Central African Republic)
- Central Europe
- Chad
- (Chad)
- Chile
- (Chile)
- China
- (China)
- Christmas Island
- (Christmas Island)
- Cocos (Keeling Islands)
- (Cocos (Keeling Islands))
- Colombia
- (Colombia)
- Comoros
- (Comoros)
- Congo
- (Congo)
- Cook Islands
- (Cook Islands)
- Costa Rica
- (Costa Rica)
- Cote D'Ivoire (Ivory Coast)
- (Cote D'Ivoire (Ivory Coast))
- Croatia (Hrvatska)
- (Croatia (Hrvatska))
- Cuba
- (Cuba)
- Cyprus
- (Cyprus)
- Czech Republic
- (Czech Republic)
- Denmark
- (Denmark)
- Djibouti
- (Djibouti)
- Dominica
- (Dominica)
- Dominican Republic
- (Dominican Republic)
- East Timor
- (East Timor)
- Ecuador
- (Ecuador)
- Egypt
- (Egypt)
- El Salvador
- (El Salvador)
- England
- (England)
- Equatorial Guinea
- (Equatorial Guinea)
- Eritrea
- (Eritrea)
- Estonia
- (Estonia)
- Ethiopia
- (Ethiopia)
- Falkland Islands (Malvinas)
- (Falkland Islands (Malvinas))
- Faroe Islands
- (Faroe Islands)
- Fiji
- (Fiji)
- Finland
- (Finland)
- France
- (France)
- Gabon
- (Gabon)
- Gambia
- (Gambia)
- Georgia
- (Georgia)
- Germany
- (Germany)
- Ghana
- (Ghana)
- Gibraltar
- (Gibraltar)
- Greece
- (Greece)
- Greenland
- (Greenland)
- Grenada
- (Grenada)
- Guadeloupe
- (Guadeloupe)
- Guam
- (Guam)
- Guatemala
- (Guatemala)
- Guiana, French
- (Guiana, French)
- Guinea
- (Guinea)
- Guinea-Bissau
- (Guinea-Bissau)
- Guyana
- (Guyana)
- Haiti
- (Haiti)
- Heard and McDonald Islands
- (Heard and McDonald Islands)
- Honduras
- (Honduras)
- Hong Kong
- (Hong Kong)
- Hungary
- (Hungary)
- Iceland
- (Iceland)
- India
- (India)
- Indonesia
- (Indonesia)
- Iran
- (Iran)
- Iraq
- (Iraq)
- Ireland
- (Ireland)
- Israel
- (Israel)
- Italy
- (Italy)
- Jamaica
- (Jamaica)
- Japan
- (Japan)
- Jordan
- (Jordan)
- Kazakhstan
- (Kazakhstan)
- Kenya
- (Kenya)
- Kiribati
- (Kiribati)
- Korea
- (Korea)
- Korea, North (People's Republic)
- (Korea, North (People's Republic))
- Korea, South (Republic)
- (Korea, South (Republic))
- Kosovo
- (Kosovo)
- Kuwait
- (Kuwait)
- Kyrgyzstan (Kyrgyz Republic)
- (Kyrgyzstan (Kyrgyz Republic))
- Laos
- (Laos)
- Latvia
- (Latvia)
- Lebanon
- (Lebanon)
- Lesotho
- (Lesotho)
- Liberia
- (Liberia)
- Libya
- (Libya)
- Liechtenstein
- (Liechtenstein)
- Lithuania
- (Lithuania)
- Luxembourg
- (Luxembourg)
- Macau
- (Macau)
- Macedonia
- (Macedonia)
- Madagascar
- (Madagascar)
- Malawi
- (Malawi)
- Malaysia
- (Malaysia)
- Maldives
- (Maldives)
- Mali
- (Mali)
- Mallorca
- (Mallorca)
- Malta
- (Malta)
- Marshall Islands
- (Marshall Islands)
- Martinique
- (Martinique)
- Mauritania
- (Mauritania)
- Mauritius
- (Mauritius)
- Mayotte
- (Mayotte)
- Mexico
- (Mexico)
- Micronesia
- (Micronesia)
- Moldova
- (Moldova)
- Monaco
- (Monaco)
- Mongolia
- (Mongolia)
- Montserrat
- (Montserrat)
- Morocco
- (Morocco)
- Mozambique
- (Mozambique)
- Myanmar
- (Myanmar)
- Namibia
- (Namibia)
- Nauru
- (Nauru)
- Nepal
- (Nepal)
- Netherlands
- (Netherlands)
- Netherlands Antilles
- (Netherlands Antilles)
- Neutral Zone (Saudia Arabia/Iraq)
- (Neutral Zone (Saudia Arabia/Iraq))
- New Caledonia
- (New Caledonia)
- New Zealand
- (New Zealand)
- Nicaragua
- (Nicaragua)
- Niger
- (Niger)
- Nigeria
- (Nigeria)
- Niue
- (Niue)
- Norfolk Island
- (Norfolk Island)
- Northern Ireland
- (Northern Ireland)
- Northern Mariana Islands
- (Northern Mariana Islands)
- Norway
- (Norway)
- Oman
- (Oman)
- Pakistan
- (Pakistan)
- Palau
- (Palau)
- Palestine
- (Palestine)
- Panama
- (Panama)
- Papua New Guinea
- (Papua New Guinea)
- Paraguay
- (Paraguay)
- Peru
- (Peru)
- Philippines
- (Philippines)
- Pitcairn
- (Pitcairn)
- Poland
- (Poland)
- Polynesia, French
- (Polynesia, French)
- Portugal
- (Portugal)
- Puerto Rico
- (Puerto Rico)
- Qatar
- (Qatar)
- Reunion
- (Reunion)
- Romania
- (Romania)
- Russia
- (Russia)
- Russian Federation
- (Russian Federation)
- Rwanda
- (Rwanda)
- S. Georgia and S. Sandwich Isls.
- (S. Georgia and S. Sandwich Isls.)
- Saint Kitts and Nevis
- (Saint Kitts and Nevis)
- Saint Lucia
- (Saint Lucia)
- Saint Vincent and The Grenadines
- (Saint Vincent and The Grenadines)
- Samoa
- (Samoa)
- San Marino
- (San Marino)
- Sao Tome and Principe
- (Sao Tome and Principe)
- Saudi Arabia
- (Saudi Arabia)
- Scotland
- (Scotland)
- Senegal
- (Senegal)
- Serbia
- (Serbia)
- Seychelles
- (Seychelles)
- Sierra Leone
- (Sierra Leone)
- Singapore
- (Singapore)
- Slovakia (Slovak Republic)
- (Slovakia (Slovak Republic))
- Slovenia
- (Slovenia)
- Solomon Islands
- (Solomon Islands)
- Somalia
- (Somalia)
- South Africa
- (South Africa)
- Southern Territories, French
- (Southern Territories, French)
- Soviet Union (former)
- (Soviet Union (former))
- Spain
- (Spain)
- Sri Lanka
- (Sri Lanka)
- St. Helena, Ascension and Tristan da
- Cunha
- (St. Helena, Ascension and Tristan da
- Cunha)
- St. Pierre and Miquelon
- (St. Pierre and Miquelon)
- Sudan
- (Sudan)
- Sudan, South
- (Sudan, South)
- Suriname
- (Suriname)
- Svalbard and Jan Mayen Islands
- (Svalbard and Jan Mayen Islands)
- Swaziland
- (Swaziland)
- Sweden
- (Sweden)
- Switzerland
- (Switzerland)
- Syria
- (Syria)
- Taiwan
- (Taiwan)
- Tajikistan
- (Tajikistan)
- Tanzania
- (Tanzania)
- Thailand
- (Thailand)
- Togo
- (Togo)
- Tokelau
- (Tokelau)
- Tonga
- (Tonga)
- Trinidad and Tobago
- (Trinidad and Tobago)
- Tunisia
- (Tunisia)
- Turkey
- (Turkey)
- Turkmenistan
- (Turkmenistan)
- Turks and Caicos Islands
- (Turks and Caicos Islands)
- Tuvalu
- (Tuvalu)
- Uganda
- (Uganda)
- Ukraine
- (Ukraine)
- United Arab Emirates
- (United Arab Emirates)
- United Kingdom (Great Britain)
- (United Kingdom (Great Britain))
- United States
- (United States)
- Uruguay
- (Uruguay)
- US Minor Outlying Islands
- (US Minor Outlying Islands)
- Uzbekistan
- (Uzbekistan)
- Vanuatu
- (Vanuatu)
- Vatican City State (Holy See)
- (Vatican City State (Holy See))
- Venezuela
- (Venezuela)
- Viet Nam
- (Viet Nam)
- Virgin Islands (British)
- (Virgin Islands (British))
- Virgin Islands (US)
- (Virgin Islands (US))
- Wales
- (Wales)
- Wallis and Futuna Islands
- (Wallis and Futuna Islands)
- Western Sahara
- (Western Sahara)
- Yemen
- (Yemen)
- Yugoslavia
- (Yugoslavia)
- Zaire
- (Zaire)
- Zambia
- (Zambia)
- Zimbabwe
- (Zimbabwe)
Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.
Age at death: age at which the individual deceased (when applicable):
- 35y = 35 years
- >43y = still alive at 43y
- 04y08m = 4 years and 8 months
- 00y00m01d12h = 1 day and 12 hours
- 18y? = around 18 years
- 30y-40y = between 30 and 40 years
- >54y = older than 54
- ? = unknown
VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator.
NOTE: to get VIP status ask the curator.
Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)
Treatment: treatment of patient
Variants in genes: The individual has variants for this gene.
Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

 Individual ID
|

 ID_report
|

 Reference
|
 Remarks
|

 Gender
|

 Consanguinity
|

 Country
|

 Population
|

 Age at death
|

 VIP
|

 Data_av
|

 Treatment
|

 Disease
|

 Phenotype details
|

 Variants
|

 Panel size
|

 Owner
|
00000208 |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
- |
- |
- |
CHTE |
central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) |
1 |
1 |
Yu Sun |
00000209 |
- |
PubMed: Sun 2011, Journal: Sun 2011 |
- |
M |
no |
Netherlands |
- |
- |
- |
- |
- |
CHTE |
central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) |
3 |
1 |
Yu Sun |
00103899 |
28327206-PatBH3185_1 |
PubMed: Eldomery 2017, Journal: Eldomery 2017 |
- |
- |
- |
United States |
- |
- |
- |
- |
- |
? |
cerebellar vermis atrophy, seizures, visual impairment, hypotonia, developmental delay |
1 |
1 |
Johan den Dunnen |
00293101 |
- |
PubMed: Narang 2020, Journal: Narang 2020 |
analysis 2794 individuals (India) |
- |
- |
India |
- |
- |
- |
- |
- |
? |
- |
1 |
9 |
Mohammed Faruq |
00388270 |
3 |
PubMed: Xu 2020 |
no patient numbering |
M |
- |
China |
Chinese Han |
- |
- |
- |
- |
KTCN |
diopter right/left eye: -4.75/-9.5, corneal thickness right/left eye: 472/444 |
1 |
1 |
LOVD |
00395857 |
F203 |
PubMed: Chen 2021 |
- |
? |
- |
Taiwan |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408502 |
III-4 |
PubMed: Felbor 1997 |
Finnish family, child 1 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
progressive myopia and iris atrophy |
1 |
1 |
LOVD |
00408503 |
III-6 |
PubMed: Felbor 1997 |
Finnish family, child 2 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
progressive myopia and iris atrophy |
1 |
1 |
LOVD |
00408504 |
III-7 |
PubMed: Felbor 1997 |
Finnish family, child 3 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
progressive myopia and iris atrophy |
1 |
1 |
LOVD |
00408505 |
III-8 |
PubMed: Felbor 1997 |
Finnish family, child 4 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
progressive myopia and iris atrophy |
1 |
1 |
LOVD |
00408506 |
III-10 |
PubMed: Felbor 1997 |
Finnish family, child 5 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
progressive myopia and iris atrophy |
1 |
1 |
LOVD |
00408507 |
III-13 |
PubMed: Felbor 1997 |
Finnish family, child 6 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
progressive myopia and iris atrophy |
1 |
1 |
LOVD |
00408508 |
III-14 |
PubMed: Felbor 1997 |
Finnish family, child 7 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
progressive myopia and iris atrophy |
1 |
1 |
LOVD |
00408509 |
III-16 |
PubMed: Felbor 1997 |
Finnish family, child 8 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
progressive myopia and iris atrophy |
1 |
1 |
LOVD |
00408510 |
IV-2 |
PubMed: Felbor 1997 |
Finnish family, grandchild 2 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
progressive myopia and iris atrophy |
1 |
1 |
LOVD |
00408511 |
IV-1 |
PubMed: Felbor 1997 |
Finnish family, grandchild 1 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
uneven or absent pigmentation in the extreme fundus periphery |
1 |
1 |
LOVD |
00408512 |
IV-3 |
PubMed: Felbor 1997 |
Finnish family, grandchild 3 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
uneven or absent pigmentation in the extreme fundus periphery |
1 |
1 |
LOVD |
00408513 |
IV-4 |
PubMed: Felbor 1997 |
Finnish family, grandchild 4 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
uneven or absent pigmentation in the extreme fundus periphery |
1 |
1 |
LOVD |
00408514 |
IV-5 |
PubMed: Felbor 1997 |
Finnish family, grandchild 5 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
uneven or absent pigmentation in the extreme fundus periphery |
1 |
1 |
LOVD |
00408515 |
IV-7 |
PubMed: Felbor 1997 |
Finnish family, grandchild 6 |
? |
- |
Finland |
- |
- |
- |
- |
- |
retinal disease |
uneven or absent pigmentation in the extreme fundus periphery |
1 |
1 |
LOVD |
00408516 |
109 |
PubMed: Felbor 1997 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
exudative form |
1 |
1 |
LOVD |
00408517 |
109 |
PubMed: Felbor 1997 |
multiple patients |
? |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408518 |
109 |
PubMed: Felbor 1997 |
multiple patients |
? |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408522 |
? |
PubMed: Felbor 1997 |
patients with common British ancestry: Buckinghamshire, England |
? |
- |
- |
English |
- |
- |
- |
- |
retinal disease |
age of onset: 37-41y, second eye involvement in years: 0-10 y, progression of central visual loss: rapid; fundus: choroidal neovascularisation, nyctalopia prior to vision loss: no; tritanomaly prior to vision loss: no |
1 |
1 |
LOVD |
00408523 |
? |
PubMed: Felbor 1997 |
patients with common British ancestry: Yorkshire, England |
? |
- |
- |
English |
- |
- |
- |
- |
retinal disease |
age of onset: 38-53y, second eye involvement in years: 0-3 y, progression of central visual loss: gradual; fundus: atrophic disease, choroidal neovascularisation, nyctalopia prior to vision loss: yes; tritanomaly prior to vision loss: yes |
1 |
1 |
LOVD |
00408524 |
? |
PubMed: Felbor 1997 |
patients with common British ancestry: Cambria, England |
? |
- |
- |
English |
- |
- |
- |
- |
retinal disease |
age of onset: 38-56, second eye involvement in years: 2-10 y, progression of central visual loss: slow; fundus: atrophic disease, choroidal neovascularisation, nyctalopia prior to vision loss: no; tritanomaly prior to vision loss: no |
1 |
1 |
LOVD |
00408525 |
? |
PubMed: Felbor 1997 |
patients with common British ancestry: Canada |
? |
- |
- |
Canadian |
- |
- |
- |
- |
retinal disease |
age of onset: 26-43, second eye involvement in years: 0-6 y, progression of central visual loss: slow/rapid; fundus: choroidal neovascularisation, nyctalopia prior to vision loss: yes; tritanomaly prior to vision loss: yes |
1 |
1 |
LOVD |
00408526 |
? |
PubMed: Felbor 1997 |
patients with common British ancestry: South Africa |
? |
- |
- |
South African |
- |
- |
- |
- |
retinal disease |
age of onset: 29-56, second eye involvement in years: 0-4 y, progression of central visual loss: stow/rapid; fundus: atrophic disease, choroidal neovascularisation 0-10 y, nyctalopia prior to vision loss: yes (only 1 patient); tritanomaly prior to vision loss: not tested in many patients |
1 |
1 |
LOVD |
00408527 |
? |
PubMed: Felbor 1997 |
patients with common British ancestry: Oregon, United States |
? |
- |
- |
American |
- |
- |
- |
- |
retinal disease |
age of onset: 31-56, second eye involvement in years: 0-4 y, progression of central visual loss: stow/rapid; fundus: atrophic disease, choroidal neovascularisation 0-10 y, nyctalopia prior to vision loss: yes; tritanomaly prior to vision loss: not tested in many patients |
1 |
1 |
LOVD |
00408528 |
Ch_I:1 |
PubMed: Tabata 1998 |
family Ch, proband's mother (error in pedigree, marked as male) |
F |
- |
Japan |
- |
- |
- |
- |
- |
retinal disease |
84y: losses of central vision due to cicatricial disciform maculopathies, peripheral retinas uninvolved; patient could continue to navigate alone until death at 95y |
1 |
1 |
LOVD |
00408529 |
Ch_II:1 |
PubMed: Tabata 1998 |
family Ch, proband |
M |
- |
Japan |
- |
- |
- |
- |
- |
retinal disease |
Initially: serous retinal detachment in the macula, visual acuity decrease and central scotoma both eyes; progressive macular degeneration resulting in disciform macular scars, while the peripheral fundi remained uninvolved, with normal peripheral fields and electroretinograms; 70y unguided walk with preserved peripheral vision |
1 |
1 |
LOVD |
00408530 |
Ch_III:1 |
PubMed: Tabata 1998 |
family Ch, proband's son (not in the article pedigree) |
M |
- |
Japan |
- |
- |
- |
- |
- |
retinal disease |
ophthalmoscopy: numerous, soft drusen-like subretinal lesions in both maculae, diagnosed as early macular degeneration |
1 |
1 |
LOVD |
00408531 |
Ue_I:1 |
PubMed: Tabata 1998 |
family Ue, proband |
M |
- |
Japan |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity right, left eye: 0.04/0.1; central scotomas, normal peripheral visual fields and electroretinograms; funduscopy: exudative disciform lesions in both maculae, with confluent yellow deposits, subretinal hemorrhages, pigment clumps, and areolar atrophy of the choriocapillaris; peripheral fundi intact, no difficulty with daily activities and night vision |
1 |
1 |
LOVD |
00408532 |
Ue_I:2 |
PubMed: Tabata 1998 |
family Ue, proband's brother 1 |
M |
- |
Japan |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity right, left eye: 0.7/0.01; ophthalmoscopy: disciform macular lesions, normal peripheral fundus; normal peripheral visual field |
1 |
1 |
LOVD |
00408533 |
Ue_I:3 |
PubMed: Tabata 1998 |
family Ue, proband's brother 2 |
M |
- |
Japan |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity right, left eye: 0.5/1.0; perimetry: central field - mild sensitivity loss in the right central field but not in the left field, with normal peripheral fields; ophthalmoscopy: retinal pigment epithelium atrophy with subretinal yellow material in both eyes but with normally appearing peripheral retinas. |
1 |
1 |
LOVD |
00408534 |
? |
PubMed: Langton 2000 |
cell line investigation |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408535 |
? |
PubMed: Langton 2000 |
cell line investigation |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408536 |
? |
PubMed: Langton 2000 |
cell line investigation |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408537 |
? |
PubMed: Langton 2000 |
cell line investigation |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408541 |
III:2 |
PubMed: Clarke 2001 |
- |
? |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
visual acuity both eyes: hand movements; complete chorioretinal atrophy at each macula; retinal vessels thinned, pigmentation in the retinal periphery; rheumatological and general medical examination: normal apart from varicose veins and mild discomfort in the hip and shoulder; renal function: normal |
1 |
1 |
LOVD |
00408542 |
IV:4 |
PubMed: Clarke 2001 |
- |
? |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity right, left eye: 6/6, 6/60; left retina: disciform scar, drusen at the right macula, peripheral retinal pigmentation in both eyes; electroretinogram: photopic responses within normal limits (although those from the right eye were larger than from the left); scotopic responses: subnormal in both eyes; electro-oculogram Arden ratio: 1.2 indicating retinal pigment epithelial dysfunction; 44y: vision in the right eye deteriorated over a period of several weeks to 6/24- flat pigmentary disturbance which did not leak on fluorescein angiography; rheumatological and general medical examination was normal; creatinine was 116 �mol/l (normal less than 110), urea 5.2 mmol/l. |
1 |
1 |
LOVD |
00408543 |
IV:10 |
PubMed: Clarke 2001 |
- |
F |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity right, left eye: at presentation, 6/18, 6/9; retinal examination: normal apart from peripheral choroidal hypopigmentation; electroretinogram: normal photopic responses but on dark adaptation the scotopic b waves were broad and of low amplitude and did not increase on prolonged adaptation, indicating a defect in the rod photoreceptor system; Pattern electroretinograms totally extinguished in right eye, and just recordable in the left; fluorescein angiogram: paramacular defects of the retinal pigment epithelium; geographic atrophy of the retinal pigment epithelium and choroid at the macula led to loss of central vision 17 years after presentation; rheumatological and general medical examination was normal, apart from mild varicose veins |
1 |
1 |
LOVD |
00408544 |
III:4 |
PubMed: Jacobson 2002 |
proband's brother 1 |
M |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
psychophysical and electroretinographic evidence of rod dysfunction greater than cone dysfunction; dark adaptometry: abnormalities with regional retinal variation in degree |
1 |
1 |
LOVD |
00408545 |
III:5 |
PubMed: Jacobson 2002 |
proband |
F |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
psychophysical and electroretinographic evidence of rod dysfunction greater than cone dysfunction; dark adaptometry: abnormalities with regional retinal variation in degree |
1 |
1 |
LOVD |
00408546 |
III:6 |
PubMed: Jacobson 2002 |
proband's sister 2 |
F |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
psychophysical and electroretinographic evidence of rod dysfunction greater than cone dysfunction; dark adaptometry: abnormalities with regional retinal variation in degree |
1 |
1 |
LOVD |
00408547 |
III:7 |
PubMed: Jacobson 2002 |
proband's brother 2 |
M |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
psychophysical and electroretinographic evidence of rod dysfunction greater than cone dysfunction; dark adaptometry: abnormalities with regional retinal variation in degree |
1 |
1 |
LOVD |
00408548 |
IV:10 |
PubMed: Jacobson 2002 |
son of proband's sister 1 |
M |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
ages 7-21 years |
1 |
1 |
LOVD |
00408549 |
IV:12 |
PubMed: Jacobson 2002 |
proband's son |
M |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
ages 7-21 years |
1 |
1 |
LOVD |
00408550 |
IV:14 |
PubMed: Jacobson 2002 |
son 1 of proband's sister 2 |
M |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
ages 7-21 years |
1 |
1 |
LOVD |
00408551 |
IV:16 |
PubMed: Jacobson 2002 |
son 2 of proband's sister 2 |
M |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
ages 7-21 years |
1 |
1 |
LOVD |
00408554 |
III:1 |
PubMed: Barbazetto 2005 |
proband |
M |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
31y: best corrected visual acuity right, left eye: 20/20, 20/60; ophthalmoscopy: a juxtafoveal choroidal neovascularization in the left eye and small areas of retinal pigment epithelial hypopigmentation in the right eye; fluorescein angiography: classic choroidal neovascularization in the left eye |
1 |
1 |
LOVD |
00408555 |
II:2 |
PubMed: Barbazetto 2005 |
proband's mother |
F |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
55y: best corrected visual acuity right, left eye: 20/70, 20/400; ophthalmoscopy: mild attenuation of the retinal vasculature, with bilateral loss of retinal pigment epithelium and choriocapillaris extending from the macula into the midperiphery combined with irregular pigment clumping that exceeded the atrophic areas; disciform scarring in the macula both eyes; small, drusenlike deposits could be seen throughout the posterior pole |
1 |
1 |
LOVD |
00408556 |
III-2 |
PubMed: Lin 2006 |
proband's paternal uncle 1 |
M |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
56y: loss of visual acuity centrally in both eyes - subfoveal choroidal neovascularization; history of amblyopia in the left eye dating back to childhood; 85y: best corrected visual acuity: 3/200 eccentrically in each eye due to the presence of large central disciform lesions; central macular region: atrophic with extension of fibrotic tissue along the vascular arcades right eye, left eye: more typical central disciform fibrotic response with evidence of an old retinal pigment epithelium tear and moderate peripapillary atrophy |
1 |
1 |
LOVD |
00408557 |
IV-1 |
PubMed: Lin 2006 |
proband's paternal uncle 1's son |
M |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
57y: central blurring and a small perimacular hemorrhage in the left eye, fluorescein angiography: no choroidal neovascularization, hemorrhage resolved spontaneously without treatment; 58y: similar symptoms in the previously unaffected right eye; best corrected visual acuity: 20/30 with metamorphopsia in the right eye, and 20/20 with no metamorphopsia or other symptoms in the left eye; fundus: a few small drusen in the left eye, slightly tigroid appearance, with slight thickening of the Bruch�s membrane and retinal pigment epithelial complex seen on both stereoscopic biomiscroscopy and optical coherence tomography; fluorescein angiography: predominantly occult subfoveal choroidal neovascularization in the right eye and none in the left eye; a series of sessions of photodynamic therapy with verteporfin and intravitreal triamcinolone over the ensuing two years at approximately three-to-six-month intervals; 60y: choroidal neovascularization right eye had regressed, a posterior subcapsular cataract had developed and vision had declined to 20/200, left eye 20/20 |
1 |
1 |
LOVD |
00408558 |
IV-6 |
PubMed: Lin 2006 |
proband's paternal uncle 2's daughter |
F |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
65y: still able to read, severe nyctalopia developed over the preceding two years; best-corrected visual acuity right, left eye: 20/40, 20/30; funduscopy: generalized attenuation of the retinal pigment epithelium diffusely in both eyes, an unapparent foveal reflex, and tigroid fundus with enhancement of the normal choroidal vascular pattern presumably due to attenuation or loss of the overlying retinal pigment epithelium; no choroidal neovascularization. optical coherence tomography: thinning both of the retinal pigment epithelium - Bruch�s layer and neurosensory retina (right/left eye: 159 / 166 microns); Goldmann visual field: normal; dark adaptometry: a slow descent to final thresholds that were elevated more than two log units above normal; full field electroretinogram: rod responses 25% of normal, and although cone responses: within normal limits but, central multifocal electroretinogram responses reduced and markedly delayed in timing; electrooculogram: extinguished |
1 |
1 |
LOVD |
00408559 |
IV-8 |
PubMed: Lin 2006 |
proband |
F |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
52y: fundus and visual acuity: normal; 62y: fluorescein angiography: right eye: extensive paracentral medium sized soft drusen and faint blocking of the early choroidal blush centrally (dark choroid sign), left eye: more prominent blocking centrally, and predominantly occult choroidal neovascularization on fluorescein angiography; indocyanine green angiography: hot spot diagnostic of choroidal neovascularization; hot spot was treated with argon laser thermal photocoagulation on several occasions, but progressed to a disciform central scar; right eye asymptomatic aside from minimal nyctalopia until 63y - fibrovascular pigment epithelial detachment associated with an indocyanine green angiography hotspot and a more pronounced circular blocking lesion on fluorescein angiography. This eye was also treated with thermal laser photocoagulation and oral steroids and retained relatively good central acuity until 66y -choroidal neovascularization recurred beneath the foveal center; 73y: best corrected visual acuity: 20/200 right eye, finger counting at 3 feet left eye |
1 |
1 |
LOVD |
00408560 |
IV-9 |
PubMed: Lin 2006 |
proband's second degree cousin |
F |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
mother and grandmother lost central vision in their mid-fifties due to macular degeneration; 47y: vision loss in the right eye due to choroidal neovascularization - laser photocoagulation unsuccessful, central disciform lesion; 59y: left eye: increased numbers of drusen and symptomatic extrafoveal choroidal neovascularization - successful obliteration of the choroidal neovascularization with thermal laser photocoagulation; 66y: best corrected visual acuity right, left eye: 10/200, 20/25 ; right eye disciform scar and epiretinal membrane, mild iris depigmentation of unknown etiology |
1 |
1 |
LOVD |
00408561 |
IV-12 |
PubMed: Lin 2006 |
proband's second degree cousin 2 |
F |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
lost vision in his 50s due to macular degeneration |
1 |
1 |
LOVD |
00408562 |
IV-14 |
PubMed: Lin 2006 |
proband's second degree cousin 3 |
M |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
lost vision in his 50s |
1 |
1 |
LOVD |
00408563 |
1 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity at presentation with subfoveal choroidal neovascularization: 20/200, best corrected visual acuity at final follow-up: 20/200; number of photodynamic therapy treatments: 10; combination: none, follow-up (months): 36 |
1 |
1 |
LOVD |
00408564 |
2 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity at presentation with subfoveal choroidal neovascularization: 20/200, best corrected visual acuity at final follow-up: 20/320; number of photodynamic therapy treatments: 2; combination: oral prednisolone, follow-up (months): 18 |
1 |
1 |
LOVD |
00408565 |
3 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity at presentation with subfoveal choroidal neovascularization: 20/120, best corrected visual acuity at final follow-up: counting fingers; number of photodynamic therapy treatments: 3; combination: none, follow-up (months): 25 |
1 |
1 |
LOVD |
00408566 |
4 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity at presentation with subfoveal choroidal neovascularization: 20/120, best corrected visual acuity at final follow-up: 20/200; number of photodynamic therapy treatments: 9; combination: posterior sub-tenon triamcinolone, follow-up (months): 25 |
1 |
1 |
LOVD |
00408567 |
5 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity at presentation with subfoveal choroidal neovascularization: 20/80, best corrected visual acuity at final follow-up: 20/80; number of photodynamic therapy treatments: 1; combination: none, follow-up (months): 6 |
1 |
1 |
LOVD |
00408568 |
6 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
best corrected visual acuity at presentation with subfoveal choroidal neovascularization: 20/40, best corrected visual acuity at final follow-up: 20/40; number of photodynamic therapy treatments: 1; combination: anecortave acetate and bevacizumab, follow-up (months): 6 |
1 |
1 |
LOVD |
00408569 |
7 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408570 |
8 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408571 |
9 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408572 |
10 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408573 |
11 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408574 |
12 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408575 |
13 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408576 |
14 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408577 |
15 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408578 |
16 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408579 |
17 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408580 |
18 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408581 |
19 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408582 |
20 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408583 |
21 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408584 |
22 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408585 |
23 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408586 |
24 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408587 |
25 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408588 |
26 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408589 |
27 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408590 |
28 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408591 |
29 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408592 |
30 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408593 |
31 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408594 |
32 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408595 |
33 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408596 |
34 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408597 |
35 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408598 |
36 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408599 |
37 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408600 |
38 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408601 |
39 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408602 |
40 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |
00408603 |
41 |
PubMed: Sivaprasad 2008 |
only first six patients mentioned separately, the other ones in a a group |
- |
- |
- |
- |
- |
- |
- |
- |
retinal disease |
- |
1 |
1 |
LOVD |