Global Variome shared LOVD
IMPG1 (interphotoreceptor matrix proteoglycan 1)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Global Variome, with Curator vacancy
View all genes
View IMPG1 gene homepage
View graphs about the IMPG1 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene IMPG1
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene IMPG1
View all variants in gene IMPG1
Full data view for gene IMPG1
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene IMPG1
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene IMPG1
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene IMPG1
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All individuals with variants in gene IMPG1
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.
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
95 entries on 1 page. Showing entries 1 - 95.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00000041
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000101
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
retinal disease
diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization
1
1
Global Variome, with Curator vacancy
00050621
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, affected parents
M
-
United Kingdom (Great Britain)
-
-
-
Decipher
-
?
global developmental delay, aggressive behavior, restrictive behavior, microcephaly, abnormal facial shape, macrotia, abnormality of eye movement
1
2
Johan den Dunnen
00309812
Fam1
PubMed: Meunier 2014
5-generation family, 8 affected (4F, 4M)
F;M
-
France
-
-
-
-
-
retinal disease
see paper; ...
1
8
Johan den Dunnen
00309813
Fam2
PubMed: Meunier 2014
3-generation family, 2 affected (2M)
M
-
France
-
-
-
-
-
retinal disease
see paper; ...
1
2
Johan den Dunnen
00309814
Fam3
PubMed: Meunier 2014
2-generation family, 1 affected
F
-
France
-
-
-
-
-
retinal disease
see paper; ...
1
1
Johan den Dunnen
00309826
Fam13–501
PubMed: Brandl 2017
2-generation family, 1 affected
M
-
Germany
-
-
-
-
-
retinal disease
see paper; ...
1
1
Johan den Dunnen
00309827
Fam11–151
PubMed: Brandl 2017
2-generation family, 1 affected
M
yes
Turkey
-
-
-
-
-
retinal disease
see paper; ...
1
1
Johan den Dunnen
00328318
W000247
PubMed: Carss 2017
-
M
-
United Kingdom (Great Britain)
Europe
-
-
-
-
retinal disease
-
1
1
LOVD
00358785
BLM066
PubMed: Zhang 2016
family
M
-
United States
Hispanic
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00362007
Pat10AB
PubMed: Duvvari 2016
patient
-
-
Netherlands
white
-
-
-
-
retinal disease
-
1
1
LOVD
00363385
HM883
PubMed: Sun 2015
proband
-
-
China
-
-
-
-
-
retinal disease
-
1
1
LOVD
00372641
RP021
PubMed: Xu 2014
family
M
-
China
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00372669
RP281
PubMed: Xu 2014
patient
F
-
China
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00372675
RP298
PubMed: Xu 2014
patient
M
-
China
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00372736
RP224
PubMed: Xu 2014
-
-
-
China
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00373485
RP0251
PubMed: Fernandez-San Jose 2015
family, 2 affected
-
-
Spain
-
-
-
-
-
retinal disease
see paper; ...
1
2
LOVD
00375423
RP#016
PubMed: Katagiri 2014
family
-
-
Japan
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00375427
RP#021
PubMed: Katagiri 2014
family
-
-
Japan
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00375429
RP#023
PubMed: Katagiri 2014
family
-
-
Japan
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00375434
RP#029
PubMed: Katagiri 2014
family
-
-
Japan
-
-
-
-
-
retinal disease
see paper; ...
1
1
LOVD
00377738
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
retinal disease
-
1
1
LOVD
00377739
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
retinal disease
-
1
1
LOVD
00377740
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
retinal disease
-
1
1
LOVD
00377741
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
retinal disease
-
1
1
LOVD
00377742
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
retinal disease
-
1
1
LOVD
00377743
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
retinal disease
-
1
1
LOVD
00377744
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
retinal disease
-
1
1
LOVD
00377745
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
retinal disease
-
1
1
LOVD
00377746
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
retinal disease
-
1
1
LOVD
00377747
-
PubMed: Abdel Aziz 2005
-
-
-
Spain
Spanish
-
-
-
-
retinal disease
-
1
1
LOVD
00378054
IR_SB_0032
-
-
F
-
Korea, South (Republic)
-
-
-
-
-
RP
HP:0032037, HP:0000613, HP:0001133, HP:0000510
1
1
Jinu Han
00380099
?
PubMed: Kersten 2018
-
M
-
-
-
-
-
-
-
retinal disease
Multifocal geographic atrophy and some intermediate drusen
1
1
LOVD
00380100
?
PubMed: Kersten 2018
-
F
-
-
-
-
-
-
-
retinal disease
Few intermediate to large soft macular drusen
1
1
LOVD
00380101
?
PubMed: Kersten 2018
-
F
-
-
-
-
-
-
-
retinal disease
Intermediate to large soft macular drusen
1
1
LOVD
00380102
?
PubMed: Kersten 2018
-
F
-
-
-
-
-
-
-
retinal disease
Intermediate to large soft macular drusen
1
1
LOVD
00381969
9
PubMed: Burkhard 2018
-
F
no
-
-
-
-
-
-
retinal disease
visual acuity : od: 0.1, os: 0.1; fundus: no foveolar reflex, but positive wall reflex, otherwise normal; color vision: impaired; electroretinography: scotopic: normal, photopic: no responses; photophobia: yes; nystagmus : yes; progression: no
1
1
LOVD
00384062
RP-2038
PubMed: Martin Merida 2019
-
?
-
Spain
-
-
-
-
-
retinal disease
-
1
1
LOVD
00386197
RPN-315
PubMed: Rodriguez-Munoz 2020
-
?
-
Spain
-
-
-
-
-
retinal disease
-
1
1
LOVD
00386255
RPN-536
PubMed: Rodriguez-Munoz 2020
-
?
-
Spain
-
-
-
-
-
retinal disease
-
1
1
LOVD
00386277
RPN-173
PubMed: Rodriguez-Munoz 2020
family fRPN-68, proband
F
-
Spain
-
-
-
-
-
retinal disease
-
1
1
LOVD
00386843
OGI677_001360
PubMed: Zampaglione-2020
-
?
-
-
-
-
-
-
-
retinal disease
-
1
1
LOVD
00388927
211
PubMed: Weisschuh 2020
Filing key number: 75, Best vitelliform macular dystrophy, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
retinal disease
age at genetic diagnosis mentioned
1
1
LOVD
00389544
828
PubMed: Weisschuh 2020
Filing key number: 339, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
retinal disease
age at genetic diagnosis mentioned
1
1
LOVD
00389546
830
PubMed: Weisschuh 2020
Filing key number: 342, macular dystrophy, no patient Ids, consecutive numbers given
M
-
Germany
-
-
-
-
-
retinal disease
age at genetic diagnosis mentioned
1
1
LOVD
00390284
G009838
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
-
-
-
-
-
-
retinal disease
-
1
1
LOVD
00390285
W000247
PubMed: Turro 2020
only individuals with mutations in retinal disease genes from this publication were inserted into LOVD
?
-
-
-
-
-
-
-
retinal disease
-
1
1
LOVD
00395851
F236
PubMed: Chen 2021
-
?
-
Taiwan
-
-
-
-
-
retinal disease
-
1
1
LOVD
00409498
?
PubMed: Lockhart 2018
-
F
-
-
-
-
-
-
-
BCD
27y: night vision difficulties; more rapid vision loss during the course of two pregnancies; over the next 20 years, the vision in the right eye continued to decline to a current best corrected visual acuity right, left eye: of 20/200 (1.0 logMAR), 20/50 (0.4 logMAR); visual fields: progressive loss of sensitivity, greater in the pericentral region between 10 deg and 20 deg from fixation, with eventual development of scotomas that deepened and enlarged with time; full field electroretinography: initially normal in both eyes (27y), slowly declined over time, became statistically significant at 39y ; relatively symmetric progressive attenuation of rod-dependent and cone-dependent responses in both eyes; multifocal electroretinography: markedly attenuated central macular cone-dependent function, notably worse in the right eye; perimetry also showed asymmetric central and paracentral scotomas with the III4e and V4e isopters that were worse in the right, which deepened and enlarged especially over the past several years; III4e isopter area shows a progressively steep decline during ages 39-46. Retinal crystalline deposits visualised on colour photography and infrared imaging; corneal limbal crystalline deposits did not manifest clinically until 33y; wide-field fundus autofluorescence: confluent hypoautofluorescence of the posterior pole correlating with extensive retinal pigment epithelium atrophy in both eyes; 47y some intact macular autofluorescence remained, correlating with residual retinal pigment epithelium and better visual acuity in the left eye. Early phase wide-field fundus autofluorescence: confluent hyperfluorescent window defect of the posterior pole with patchy hypofluorescent choroidal atrophy; 44y, cystoid macular oedema (CME), worse in the right eye on optical coherence tomography
1
1
LOVD
00411617
?
PubMed: Greenberg 2003
South African family, proband
M
yes
South Africa
-
-
-
-
-
retinal disease
night blindness, sensitivity to bright light, visual field loss, loss of visual acuity
1
1
LOVD
00414780
FamPatII2
PubMed: van Lith Verhoeven 2004
3-generation family, 11 affected (7F, 4M)
F
-
Netherlands
-
-
-
-
-
retinal disease
44y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.87, 1.91; dark adaptation elevation (10log): 1; 54y: visual acuity right, left eye: 20/40, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.11, 0.97; dark adaptation elevation (10log): 1
1
11
LOVD
00414781
FamPatII4
PubMed: van Lith Verhoeven 2004
-
F
-
Netherlands
-
-
-
-
-
retinal disease
50y: visual acuity right, left eye: 20/25, 20/20; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.12, 1; dark adaptation elevation (10log): 0.5; 65y: visual acuity right, left eye: 20/30, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 0.98, 0.96; dark adaptation elevation (10log): 1.5
1
1
LOVD
00414782
FamPatII7
PubMed: van Lith Verhoeven 2004
-
F
-
Netherlands
-
-
-
-
-
retinal disease
45y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.5, 1.7; dark adaptation elevation (10log): 0.5; 60y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.4, 1.3; dark adaptation elevation (10log): 1
1
1
LOVD
00414783
FamPatII9
PubMed: van Lith Verhoeven 2004
-
M
-
Netherlands
-
-
-
-
-
retinal disease
47y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: normal / normal; electrooculography right / left eye: 0.98, 1.04; dark adaptation elevation (10log): 0.5; 18y: visual acuity right, left eye: 20/60, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): normalP
1
1
LOVD
00414784
FamPatII2
PubMed: van Lith Verhoeven 2004
-
F
-
Netherlands
-
-
-
-
-
retinal disease
18y: visual acuity right, left eye: 20/60, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): normalP; 28y: visual acuity right, left eye: 20/60, 20/40; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): 1.5; 43y: visual acuity right, left eye: 20/60, 20/40; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 1.09, 0.97; dark adaptation elevation (10log): 3
1
1
LOVD
00414785
FamPatII3
PubMed: van Lith Verhoeven 2004
-
M
-
Netherlands
-
-
-
-
-
retinal disease
16y: visual acuity right, left eye: 20/20, 20/20; electroretinogram, scotopic, right / left eye: normal / normal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 2.14, 2.36; dark adaptation elevation (10log): normal; 26y: visual acuity right, left eye: 20/15, 20/15; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 2, 1.75; dark adaptation elevation (10log): normal; 41y: visual acuity right, left eye: 20/15, 20/40; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: normal / normal; electrooculography right / left eye: 1.65, 1.38; dark adaptation elevation (10log): normalP
1
1
LOVD
00414786
FamPatII5
PubMed: van Lith Verhoeven 2004
-
F
-
Netherlands
-
-
-
-
-
retinal disease
24y: visual acuity right, left eye: 20/25, 20/25; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1.22, 1.27; dark adaptation elevation (10log): 0.5; 40y: visual acuity right, left eye: 20/20, 20/15; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: nonrecordable / nonrecordable; electrooculography right / left eye: 0.89, 0.77; dark adaptation elevation (10log): normal
1
1
LOVD
00414787
FamPatII6
PubMed: van Lith Verhoeven 2004
-
M
-
Netherlands
-
-
-
-
-
retinal disease
33y: visual acuity right, left eye: 20/20, 20/20; electroretinogram, scotopic, right / left eye: nonrecordable / nonrecordable, photopic right / left eye: subnormal / subnormal; electrooculography right / left eye: 1, 1; dark adaptation elevation (10log): 1
1
1
LOVD
00414788
FamPatIV1;FamLPatIV1
PubMed: van Lith Verhoeven 2004
,
PubMed: Olivier 2021
-
F
-
Netherlands
-
-
-
-
-
retinal disease
17y: visual acuity right, left eye: 20/15, 20/15; electroretinogram, scotopic, right / left eye: subnormal / subnormal, photopic right / left eye: normal / normal; electrooculography right / left eye: 1.64, 1.75; dark adaptation elevation (10log): normal
1
1
LOVD
00414813
MTP327_IV:2
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/200, 20/60; electrooculography Arden ratios right, left eye: 2.49, 2.82; electroretinogram (dim blue light; 30 Hz flickers), right eye: 217, 98, left eye: 208, 97
1
1
LOVD
00414814
MTP327_IV:4
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/50, 30/50; electrooculography Arden ratios right, left eye: 2.11, 2.27; electroretinogram (dim blue light; 30 Hz flickers), right eye: 132, 67, left eye: 104, 62
1
1
LOVD
00414815
MTP327_IV:6
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/400, CF; electrooculography Arden ratios right, left eye: 1.25, 1.34; electroretinogram (dim blue light; 30 Hz flickers), right eye: 205, 42, left eye: 227, 49
1
1
LOVD
00414816
MTP327_V:2
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: not done; electroretinogram (dim blue light; 30 Hz flickers): not done
1
1
LOVD
00414817
MTP327_V:3
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/200, 20/40; electrooculography Arden ratios right, left eye: 2.44, 2.62; electroretinogram (dim blue light; 30 Hz flickers): not done
1
1
LOVD
00414818
MTP327_V:4
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/20, 20/25; electrooculography Arden ratios right, left eye: 1.94, 1.95; electroretinogram (dim blue light; 30 Hz flickers): not done
1
1
LOVD
00414819
MTP327_V:5
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: 1.71, 1.54; electroretinogram (dim blue light; 30 Hz flickers), right eye: 274, 70, left eye: 233, 61
1
1
LOVD
00414820
MTP327_V:6
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/60, 20/20; electrooculography Arden ratios right, left eye: 2.20, 2.01; electroretinogram (dim blue light; 30 Hz flickers), right eye: 258, 51, left eye: 243, 48
1
1
LOVD
00414821
MTP1290_III:1
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 40/200, 20/200; electrooculography Arden ratios right, left eye: 2.91, 2.85; electroretinogram (dim blue light; 30 Hz flickers), right eye: 427, 105, left eye: 409, 101
1
1
LOVD
00414822
MTP1290_III:4
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/40, 20/30; electrooculography Arden ratios right, left eye: 1.66, 1.73; electroretinogram (dim blue light; 30 Hz flickers), right eye: 333, 83, left eye: 319, 72
1
1
LOVD
00414823
MTP1290_III:5
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: 2.44, 2.14; electroretinogram (dim blue light; 30 Hz flickers), right eye: 292, 61, left eye: 262, 78
1
1
LOVD
00414824
MD0531_II:3
PubMed: Manes 2013
-
M
-
Spain
Spanish
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 40/200, 20/200; electrooculography Arden ratios right, left eye: 2.91, 2.85; electroretinogram (dim blue light; 30 Hz flickers), right eye: 427, 105, left eye: 409, 101
1
1
LOVD
00414825
MD0531_III:1
PubMed: Manes 2013
-
F
-
Spain
Spanish
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 40/200, 20/200; electrooculography Arden ratios right, left eye: 2.91, 2.85; electroretinogram (dim blue light; 30 Hz flickers), right eye: 427, 105, left eye: 409, 101
1
1
LOVD
00414826
MD0531_III:5
PubMed: Manes 2013
-
F
-
Spain
Spanish
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/30, 25/30; electrooculography Arden ratios right, left eye: 2.25, 2.35; electroretinogram (dim blue light; 30 Hz flickers), right eye: 385, 88, left eye: 357, 72
1
1
LOVD
00414827
MD0531_III:8
PubMed: Manes 2013
-
M
-
Spain
Spanish
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 40/200, 20/50; electrooculography Arden ratios right, left eye: 2.31, 2.61; electroretinogram (dim blue light; 30 Hz flickers): not done
1
1
LOVD
00414828
NA1863_II:1
PubMed: Manes 2013
parents had tiny extramacular deposits, which suggests that the c.461T>C and c.807+1G>T changes could be sufficient to cause subclinical retinal abnormalities
M
yes
Italy
Italian
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/30, 25/30; electrooculography Arden ratios right, left eye: 1.48, 1.64; electroretinogram (dim blue light; 30 Hz flickers): normal
1
1
LOVD
00414829
NA1863_II:2
PubMed: Manes 2013
parents had tiny extramacular deposits, which suggests that the c.461T>C and c.807+1G>T changes could be sufficient to cause subclinical retinal abnormalities
F
yes
Italy
Italian
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/20, 20/20; electrooculography Arden ratios right, left eye: 1.58, 1.68; electroretinogram (dim blue light; 30 Hz flickers): normal
1
1
LOVD
00414830
NAL69_II:2
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/22, 20/22; electrooculography Arden ratios right, left eye: 1.53, 1.61; electroretinogram (dim blue light; 30 Hz flickers): decreased scotopic and photopic responses
2
1
LOVD
00414831
NAL69_II:4
PubMed: Manes 2013
-
M
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/33, 20/20; electrooculography Arden ratios right, left eye: 1.67, 2.41; electroretinogram (dim blue light; 30 Hz flickers): decreased scotopic and photopic responses
2
1
LOVD
00414832
NAX1_II:2
PubMed: Manes 2013
-
F
-
France
French
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/60, 20/40; electrooculography Arden ratios right, left eye: 2.32, 2.55; electroretinogram (dim blue light; 30 Hz flickers), right eye: 121, 75, left eye: 146, 81
1
1
LOVD
00414833
?
PubMed: Gonzalez Gomez 2019
-
-
-
-
-
-
-
-
-
retinal disease
gradual bilateral decrease of visual acuity of several months-duration; best corrected visual acuity (BCVA) right, left eye: 1/2, 2/3; intraocular pressure and anterior segment: unremarkable; ophthalmoscopy: bilateral and annular alteration of the retinal pigment epithelium (RPE) surrounding an intact central macula; optic coherence tomography: central and annular atrophy of the RPE, with increased choroidal hyperreflectivity, in the foveal region, generalized decrease of the macular thickness and the ganglion cell layer were also observed; autofluorescence: a central area of normal fluorescence surrounded by a concentric, perifoveal, and hyperautofluorescent area; fluorescein angiography: bull's-eye maculopathy. Electrophysiological testing described a nonspecific rod and cone dysfunction; campimetry: bilateral central scotoma affecting the central 5 degrees; subsequent annual reviews - the patient complained about a gradual decrease in the visual acuity, dyschromatopsia, and difficulties for activities th required the use of central vision; 3y after the first visit BCVA: 2/5, 1/2; ophthalmoscopy, optical coherence tomography and autofluorescence tests - mild progression of the atrophy areas; campimetry: bilateral central scotoma affecting the central 10 degrees, a poor progression of the disease; progressive worsening of symptoms over the 3 years of followup due to the maculopathy, as no other secondary complications were detected on subsequent review
1
1
LOVD
00414840
?
PubMed: Gupta 2019
proband
F
-
-
-
-
-
-
-
retinal disease
best corrected visual acuity right, left eye: 20/20, 20/40-3; Amsler testing: central scotoma in the left eye on; fundus: left eye a small round yellow foveal lesion; optical coherence tomography: disorganization and decreased reflectance of the foveal ellipsoid zone (EZ) and interdigitation zone (IZ), along with a small subretinal lucency; right eye - a much smaller foveal yellow spot with a corresponding smaller foveal area of disorganization and decreased reflectance of the EZ and IZ; fluorescein angiography and indocyanine green angiography: normal; short wavelength fundus autofluorescence: normal findings in the right eye and a subtle central area of increased autofluorescence in the left eye; multifocal electroretinogram: a small reduction in the central retinal response peak of the left eye; interocular difference in central response peaks statistically significant (P , 0.01); absolute amplitude of the central response peak in the left eye smaller than the surrounding hexagons, not seen in normal eyes; electrooculogram: not performed; causes of yellow foveal spots and/or outer retinal disruption such as solar retinopathy, laser pointer–induced maculopathy, alkyl nitrate abuse, tamoxifen retinopathy, achromatopsia, and cone dystrophy were ruled out by context, clinical examination, and multimodal imagi
1
1
LOVD
00414841
?
PubMed: Gupta 2019
proband's father
M
-
-
-
-
-
-
-
retinal disease
review of the imaging confirmed thickened choroid with pachyvessels in the right eye more than in the left eye, with retinal pigment epithelial abnormalities and subretinal fluid in the right eye consistent with central serous chorioretinopathy
1
1
LOVD
00417496
FamA
PubMed: Olivier 2021
4-generation family, 12 affected (8F, 4M)
F;M
-
France
-
-
-
-
-
RP
see paper
1
12
Johan den Dunnen
00417497
FamBPatII2
PubMed: Olivier 2021
2-generation family, 1 affected, unaffected carrier mother and 2 sisters
F
-
France
-
-
-
-
-
VMD
see paper
1
1
Johan den Dunnen
00417498
FamCPatII1
PubMed: Olivier 2021
2 generation family, 1 affected, unaffected carrier mother
F
-
Spain
-
-
-
-
-
RP
see paper; ..., moderate retinitis pigmentosa; fundus typical appearance of bone spicules mid-peripheral retina,slightly attenuated retinal vessels
1
1
Johan den Dunnen
00417499
FamDPatII2/3
PubMed: Olivier 2021
2 generation family, affected brother/sister, unaffected carrier sister
F;M
-
Spain
-
-
-
-
-
RP
see paper
1
2
Johan den Dunnen
00417500
FamEPatII2/7
PubMed: Olivier 2021
3-generation family, 3 affected (2F, M), unaffected carrier son (40y)
F;M
-
France
-
-
-
-
-
RP
see paper
1
3
Johan den Dunnen
00417501
FamFPatI1/II1
PubMed: Olivier 2021
2-generation family, affected mother/daughter
F
-
United Kingdom (Great Britain)
-
-
-
-
-
VMD
see paper
1
2
Johan den Dunnen
00417502
FamGPatI1/II1
PubMed: Olivier 2021
2-generation family, affected mother/daughter
F
-
United Kingdom (Great Britain)
-
-
-
-
-
VMD
see paper
1
2
Johan den Dunnen
00417503
FamHPatII1
PubMed: Olivier 2021
2-generation family, 1 affected, unaffected carrier brother
M
-
France
-
-
-
-
-
maculopathy
see paper
1
1
Johan den Dunnen
00417504
FamI
PubMed: Olivier 2021
2 generation family, 1 affected
F
-
Spain
-
-
-
-
-
RP
-
1
1
Johan den Dunnen
00417505
FamJ
PubMed: Olivier 2021
2 generation family, 1 affected
F
-
Spain
-
-
-
-
-
COD
see paper
1
1
Johan den Dunnen
00417506
FamKPatII1/3
PubMed: Olivier 2021
2-generation family, affected brother/sister
F;M
-
Spain
-
-
-
-
-
RP
see paper
1
1
Johan den Dunnen
00417507
FamLPatIV3
PubMed: Olivier 2021
-
M
-
Netherlands
-
-
-
-
-
retinal disease
-
1
1
Johan den Dunnen
00420539
F236
PubMed: Chen 2021
-
-
-
Taiwan
-
-
-
-
-
retinal disease
-
1
1
LOVD
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center