Disease #04250 (retinal degeneration)

Official abbreviation	-
Name	retinal degeneration
OMIM ID	-
Inheritance	-
Individuals reported having this disease	87
Phenotype entries for this disease	78
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-05-04 22:12:01 +02:00 (CEST)
Date last edited	N/A

Individuals

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'

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87 entries on 1 page. Showing entries 1 - 87.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00038100	-	PubMed: Benayoun 2009	-	F	yes	Israel	Israeli	-	-	-	-	retinal degeneration	early-onset retinal degeneration, bone spicule pigmentation, pale and atrophic optic disc, nystagmus, exotrophia, severe hypermetropia	CRB1	CRB1	1	4	Frans Cremers
00038101	-	PubMed: Benayoun 2009	-	F	yes	Israel	Israeli	-	-	-	-	retinal degeneration	early-onset retinal degeneration, bone spicule pigmentation, attenuated vessels, pale and atrophic optic disc, nystagmus, severe hypermetropia	CRB1	CRB1	1	4	Frans Cremers
00038102	-	PubMed: Benayoun 2009	-	F	yes	Israel	Israeli	-	-	-	-	retinal degeneration	early-onset retinal degeneration, bone spicule pigmentation, attenuated vessels, pale and atrophic optic disc, nystagmus, severe hypermetropia	CRB1	CRB1	1	4	Frans Cremers
00038103	-	PubMed: Benayoun 2009	-	F	yes	Israel	Israeli	-	-	-	-	retinal degeneration	early-onset retinal degeneration, bone spicule pigmentation, attenuated vessels, pale and atrophic optic disc, nystagmus, keratoconus	CRB1	CRB1	1	4	Frans Cremers
00038161	-	PubMed: Aleman 2011	-	F	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	8	Frans Cremers
00038162	-	PubMed: Aleman 2011	-	M	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	8	Frans Cremers
00038163	-	PubMed: Aleman 2011	-	F	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	1	Frans Cremers
00038164	-	PubMed: Aleman 2011	-	F	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	8	Frans Cremers
00038165	-	PubMed: Aleman 2011	-	F	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	8	Frans Cremers
00038166	-	PubMed: Aleman 2011	-	M	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	8	Frans Cremers
00038167	-	PubMed: Aleman 2011	-	M	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	8	Frans Cremers
00038168	Pat10	PubMed: Aleman 2011	family, 2 affected sibs	M	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	1	2	Frans Cremers
00038169	-	PubMed: Aleman 2011	-	F	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	8	Frans Cremers
00038170	-	PubMed: Aleman 2011	-	M	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	1	Frans Cremers
00038171	-	PubMed: Aleman 2011	-	M	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	2	Frans Cremers
00038172	-	PubMed: Aleman 2011	-	F	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	1	Frans Cremers
00038173	Pat15	PubMed: Aleman 2011	family, 2 affected	F	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	2	Frans Cremers
00038174	Pat16	PubMed: Aleman 2011	sib of Pat10	M	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	1	1	Frans Cremers
00038175	-	PubMed: Aleman 2011	-	F	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	1	Frans Cremers
00038176	-	PubMed: Aleman 2011	-	F	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	1	Frans Cremers
00038177	-	PubMed: Aleman 2011	-	M	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	2	Frans Cremers
00038178	-	PubMed: Aleman 2011	-	M	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	3	Frans Cremers
00038179	Pat21	PubMed: Aleman 2011	sib of Pat15	M	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	1	Frans Cremers
00038180	-	PubMed: Aleman 2011	-	M	?	United States	American	-	-	-	-	retinal degeneration	Poor vision, attenuated retinal vessels, waxy appearance of the optic nerve head	CRB1	CRB1	2	1	Frans Cremers
00038318	-	PubMed: Luhmann 2014	-	?	?	-	?	-	-	-	-	retinal degeneration	Retinal degeneration	CRB1	CRB1	1	1	Frans Cremers
00052667	-	PubMed: El Matri 2006	6-generation family, 6 affected	F	yes	Tunisia	Tunisian	-	-	-	-	retinal degeneration	retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus	RPE65	RPE65	1	6	Muhammad Ajmal
00052668	-	PubMed: El Matri 2006	6-generation family, 6 affected	M	yes	Tunisia	Tunisian	-	-	-	-	retinal degeneration	retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus	RPE65	RPE65	1	1	Muhammad Ajmal
00052669	-	PubMed: El Matri 2006	6-generation family, 6 affected	F	yes	Tunisia	Tunisian	-	-	-	-	retinal degeneration	retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus	RPE65	RPE65	1	1	Muhammad Ajmal
00052670	-	PubMed: El Matri 2006	6-generation family, 6 affected	M	yes	Tunisia	Tunisian	-	-	-	-	retinal degeneration	retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus	RPE65	RPE65	1	1	Muhammad Ajmal
00052671	-	PubMed: El Matri 2006	6-generation family, 6 affected	F	yes	Tunisia	Tunisian	-	-	-	-	retinal degeneration	retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus	RPE65	RPE65	1	1	Muhammad Ajmal
00052672	-	PubMed: El Matri 2006	6-generation family, 6 affected	?	yes	Tunisia	Tunisian	-	-	-	-	retinal degeneration	retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus	RPE65	RPE65	1	6	Muhammad Ajmal
00052673	-	PubMed: El Matri 2006	6-generation family, 6 affected	?	yes	Tunisia	Tunisian	-	-	-	-	retinal degeneration	retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus	RPE65	RPE65	1	1	Muhammad Ajmal
00052674	-	PubMed: El Matri 2006	6-generation family, 6 affected	?	yes	Tunisia	Tunisian	-	-	-	-	retinal degeneration	retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus	RPE65	RPE65	1	1	Muhammad Ajmal
00052675	-	PubMed: El Matri 2006	6-generation family, 6 affected	?	yes	Tunisia	Tunisian	-	-	-	-	retinal degeneration	retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus	RPE65	RPE65	1	1	Muhammad Ajmal
00052676	-	PubMed: El Matri 2006	6-generation family, 6 affected	?	yes	Tunisia	Tunisian	-	-	-	-	retinal degeneration	retinal degeneration, early-onset; macular degeneration, absence of normal pupil response, pigmentary changes over time, poor or loss in night vision, nystagmus	RPE65	RPE65	1	1	Muhammad Ajmal
00052730	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052731	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052732	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052733	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052734	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052735	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052736	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052737	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052738	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052739	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	1	1	Muhammad Ajmal
00052740	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052741	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052742	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	1	1	Muhammad Ajmal
00052743	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052744	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052745	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	1	1	Muhammad Ajmal
00052746	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	1	1	Muhammad Ajmal
00052747	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	2	1	Muhammad Ajmal
00052748	-	PubMed: Thompson 2000	-	?	no	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	1	1	Muhammad Ajmal
00052749	-	PubMed: Thompson 2000	-	?	?	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	1	1	Muhammad Ajmal
00052750	-	PubMed: Thompson 2000	-	?	?	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	1	1	Muhammad Ajmal
00052751	-	PubMed: Thompson 2000	-	?	?	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	1	1	Muhammad Ajmal
00052752	-	PubMed: Thompson 2000	-	?	?	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	1	1	Muhammad Ajmal
00052753	-	PubMed: Thompson 2000	-	?	?	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	1	1	Muhammad Ajmal
00052754	-	PubMed: Thompson 2000	-	?	?	-	?	-	-	-	-	retinal degeneration	retinal degeneration	RPE65	RPE65	1	1	Muhammad Ajmal
00054743	-	-	-	M	yes	India	South Asian	-	-	27y	-	retinal degeneration	-	-	ADIPOR1	1	1	Mingchu Xu
00263964	PKRD320 III:4	PubMed: Biswas 2018	3-generation family, 3 affected	M	yes	Pakistan	-	-	-	-	-	retinal degeneration, retinal disease	inherited retinal degeneration (HP:0000546), retinal dystrophy (HP:0000556)	-	C1QTNF4, CARS2, ZNF408	3	3	Jasmine Chen
00263965	PKRD320 III:7	PubMed: Biswas 2018	PatIII7	F	yes	Pakistan	-	-	-	-	-	retinal degeneration	-	-	C1QTNF4, ZNF408	2	1	Jasmine Chen
00327005	M72 II-2	Doucette 2021, submitted	3 generation family segregating dominant form of unknown syndromic vision loss, affected mother; NOTE: undefined condition, no entries for hearing loss and congenital cataracts. This would be autosomal dominant hearing loss and congenital cataracts.	F	-	Canada	Ukranian/German descent	-	-	Yes	-	cancer, breast, DFNA1, retinal degeneration, RIDDLE syndrome	Breast cancer, Dominantly inherited learning disabilities, facial dysmorphism, congenital cataracts, and congenital hearing loss. Clinical assessment by a medical geneticist indicated this family shared some systemic dysmorphisms (short stature, small head circumference, and low weight, hypertelorism) and behavioral/learning disabilities, similar to RIDDLE syndrome patients. Breast cancer diagnosed at age 31.	-	C1orf95, TOP2A, UBE2U	3	5	Lance P Doucette
00327049	M72 III-1	Doucette 2021, submitted	-	M	no	Canada	Ukranian;Germany	-	-	Yes	-	retinal degeneration, RIDDLE syndrome	- Bilateral small optic nerves, nystagmus - Splitting between the inner nuclear and the outer plexiform layer in left eye consistent with retinoschisis -Congenital cataracts, nystagmus, retinoschisis OS, -RIDDLE-Like presentation -Mild to moderate hearing loss -Learning disability (ADHD) -Moderate intellectual disability -Delayed developmental milestones -25th-50th%ile height -10-25th %tle weight -3rd %ile head circumference -bracycephaly -micrognathia -1 cafe au lait spot	-	C1orf54, TOP2A, UBE2U	3	1	Lance P Doucette
00327050	M72 III-2	Doucette 2021, submitted	-	F	no	Canada	Ukranian/German	-	-	Yes	-	retinal degeneration, RIDDLE syndrome	Bilateral congenital cataracts, amblyopia, exotropia	-	C1orf54, TOP2A, UBE2U	3	1	Lance P Doucette
00327051	M72 III-3	Doucette 2021, submitted	-	-	-	Canada	Ukranian/German descent	-	-	Yes	-	retinal degeneration, RIDDLE syndrome	-RIDDLE-like presentation -Mild to moderate hearing loss -Developmental delay -3-10th %ile height -25th %ile weight -2-50th %ile head circumference -micrognathia., Bilateral congenital cataracts, Esotropia, Amblyopia	-	C1orf54, TOP2A, UBE2U	3	1	Lance P Doucette
00327463	M69 II-1	Doucette 2021, Submitted	Affected sister in a 4 member family. Brother is reportedly affected however we were unable to examine him. Parents are both unaffected, presuming recessive inheritance pattern.	F	-	Canada	Middle eastern origin	-	-	Yes	-	retinal degeneration	Fundus findings: Circumscribed central retinal atrophy (Retinal atrophy HP:0001105) Ocular coherence tomography (OCT): Atrophy of outer retina. Bruch's membrane is absent in the central fovea. Electroretinogram: Normal ffERG in the right eye; reduced cone flash and flicker in the left eye (Abnormal ERG HP:0000512)	-	CC2D2A, COL28A1, CROCC, FLT4, G3BP2, LCA5, MFN2, MST1L, MTMR12, RNF207, SAMD11, TBC1D9, UCP1	16	2	Lance P Doucette
00361822	Pat39	PubMed: Bahena 2021	-	F	yes	Iran	-	-	-	-	-	deafness, retinal degeneration	-	-	CEP78	1	1	Barbara Vona
00361825	Pat40	PubMed: Bahena 2021	-	F	yes	Iran	-	-	-	-	-	deafness, retinal degeneration	-	-	CEP78	2	2	Barbara Vona
00362261	Pat51	PubMed: Bahena 2021	-	M	no	Iran	-	-	-	-	-	deafness, retinal degeneration	-	-	PDSS2, USH2A	3	2	Barbara Vona
00362262	Pat53	PubMed: Bahena 2021	-	F	yes	Iran	-	-	-	-	-	deafness, retinal degeneration	-	-	CACNA2D4, PRPF8	2	1	Barbara Vona
00375519	-	-	four-generation family with five affected one unaffected members	-	-	-	-	-	-	-	-	retinal degeneration	Progressive retinal degeneration with maculopathy	ARL3	ARL3	1	1	Rinki Ratnapriya
00414792	patient	PubMed: Priglinger 2022, Journal: Priglinger 2022	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	no	Greece	-	-	-	-	-	retinal degeneration	see paper; ..., isolated cone dysfunction, bilateral optic atrophy, Pelger-Huët anomaly, no short stature, no recurrent acute liver failure, no susceptibility to infections	-	NBAS	2	2	Nicole Weisschuh
00464642	Pat6	PubMed: Capasso 2025	-	-	-	-	-	-	-	-	-	retinal degeneration	-	NMNAT1	NMNAT1	2	1	Susanne Roosing
00464643	Pat7	PubMed: Capasso 2025	-	-	-	-	-	-	-	-	-	retinal degeneration	-	NMNAT1	NMNAT1	2	1	Johan den Dunnen
00465206	Fam1PatIII5	PubMed: Gardner 2025	4-generation family, 8 affected (F, 7M), 6 unaffected carrier females	M	-	-	-	-	-	-	-	retinal degeneration	see paper; ..., reduced visual acuity; onset early childhood; visiual acuity (LogMAR) OD 1, OS 1; fundus early macular atrophy; ERG 36y-cone dystrophy	-	CBWD1	2	8	Johan den Dunnen
00465207	Fam2PatII1	PubMed: Gardner 2025	3-generation family, 5 affected (5M0, one unaffected carrier female	M	-	-	-	-	-	-	-	retinal degeneration	see paper; ..., night blindness, reduced visual acuity; onset early childhood; fundus retinitis pigmentosa; OD light perception, OS no light perception; fundus retinitis pigmentosa	-	SNTN, SYNPR	2	5	Johan den Dunnen
00465208	Fam2PatII4	PubMed: Gardner 2025	brother	M	-	-	-	-	-	-	-	retinal degeneration	see paper; ..., night blindness, reduced visual acuity; onset early childhood; fundus retinitis pigmentosa	-	-	1	1	Johan den Dunnen
00465209	Fam2PatII5	PubMed: Gardner 2025	brother	M	-	-	-	-	-	-	-	retinal degeneration	see paper; ..., night blindness, reduced visual acuity; onset early childhood; fundus retinitis pigmentosa	-	-	1	1	Johan den Dunnen
00465210	Fam1PatIII9	PubMed: Gardner 2025	brother	M	-	-	-	-	-	-	-	retinal degeneration	see paper; ..., reduced visual acuity, light sensitivity; onset early childhood; visiual acuity (LogMAR) OD 0,48, OS 0,48; fundus early macular atrophy; ERG 32y-cone-rod dystrophy	-	-	1	1	Johan den Dunnen
00465211	Fam1PatIII17	PubMed: Gardner 2025	brother	M	-	-	-	-	-	-	-	retinal degeneration	see paper; ..., reduced visual acuity, light sensitivity; onset early childhood; visiual acuity (LogMAR) OD 1,3, OS 1,1; fundus early macular atrophy; ERG 47y-cone-rod dystrophy	-	-	1	1	Johan den Dunnen
00465212	Fam1PatIV1	PubMed: Gardner 2025	nephew	M	-	-	-	-	-	-	-	retinal degeneration	see paper; ..., reduced visual acuity, light sensitivity; onset early childhood; visiual acuity (LogMAR) OD 0,48, OS 0,78; fundus Bull's eye maculopathy; ERG 27y-cone-rod dystrophy	-	-	1	1	Johan den Dunnen
00465213	Fam1PatIV2	PubMed: Gardner 2025	nephew	M	-	-	-	-	-	-	-	retinal degeneration	see paper; ..., reduced visual acuity; onset early childhood; visiual acuity (LogMAR) OD 0,18, OS 0,3; fundus abnormal reflex; ERG 17y-cone dystrophy	-	-	1	1	Johan den Dunnen
00465214	Fam1PatIV15	PubMed: Gardner 2025	nephew	M	-	-	-	-	-	-	-	retinal degeneration	see paper; ..., reduced visual acuity; onset early childhood; visiual acuity (LogMAR) OD 0,6, OS 0,6; fundus early macular atrophy; ERG 24y-macular dystrophy	-	-	1	1	Johan den Dunnen
00465215	Fam1PatIV16	PubMed: Gardner 2025	nephew	M	-	-	-	-	-	-	-	retinal degeneration	see paper; ..., reduced visual acuity; onset early childhood; visiual acuity (LogMAR) OD 0,6, OS 0,6; fundus Bull's eye maculopathy; ERG 23y-macular dystrophy	-	-	1	1	Johan den Dunnen
00465216	Fam1PatIV13	PubMed: Gardner 2025	niece	F	-	-	-	-	-	-	-	retinal degeneration	see paper; ..., reduced visual acuity, Turner Syndrome; onset early childhood; visiual acuity (LogMAR) OD 0,6, OS 0,6; fundus early macular atrophy; ERG 19y-cone dystrophy	-	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

PTGIS (prostaglandin I2 (prostacyclin) synthase)