Disease #04210 (LCA (Leber congenital amaurosis (LCA)))

Official abbreviation	LCA
Name	Leber congenital amaurosis (LCA)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	1047
Phenotype entries for this disease	1018
Associated with 2 genes	GDF6, GUCY2D
Associated tissues	-
Disease features	-
Remarks	-

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:

? = unknown
- = not applicable
no = non-consanguineous parents
yes = consanguineous parents

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. African, white, gypsy, jew (Ashkenazi), Sardinian, 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.

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	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
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combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

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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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1047 entries on 11 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10	11		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00033039	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	1	1	Johan den Dunnen
00033043	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	autosomal recessive retinitis pigmentosa (ARRP)	CRB1	CRB1	1	1	Johan den Dunnen
00033044	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	autosomal recessive retinitis pigmentosa (ARRP)	CRB1	CRB1	1	1	Johan den Dunnen
00033053	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033054	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033056	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033058	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033059	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033060	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033061	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033062	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033064	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033065	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033066	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033068	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033076	-	PubMed: Henderson 2010	-	-	-	United Kingdom (Great Britain)	-	-	-	-	LCA	-	CRB1	CRB1	2	1	Johan den Dunnen
00033079	-	-	-	M	-	Netherlands	-	-	-	-	LCA	-	CEP290	CEP290	2	1	Johan den Dunnen
00033080	-	-	-	-	-	France	-	-	-	-	LCA	-	CEP290	CEP290	2	1	Johan den Dunnen
00033082	-	-	-	-	-	-	-	-	-	-	LCA	-	CEP290	CEP290	1	1	Johan den Dunnen
00033083	-	-	-	-	-	-	-	-	-	-	LCA	-	CEP290	CEP290	1	83	Johan den Dunnen
00033084	-	-	-	-	-	-	-	-	-	-	LCA	-	CEP290	CEP290	1	1	Johan den Dunnen
00033085	-	-	-	-	-	-	-	-	-	-	LCA	-	CEP290	CEP290	1	1	Johan den Dunnen
00033352	-	-	-	-	-	-	-	-	-	-	LCA	-	RPGRIP1	RPGRIP1	2	1	Leen Abu Safieh
00033356	-	-	-	-	-	-	-	-	-	-	LCA	-	RPGRIP1	RPGRIP1	2	1	Leen Abu Safieh
00033357	-	-	-	-	-	-	-	-	-	-	LCA	-	RPGRIP1	RPGRIP1	2	1	Leen Abu Safieh
00033362	-	-	-	-	-	-	-	-	-	-	LCA	gliosis	RPGRIP1	RPGRIP1	2	1	Leen Abu Safieh
00033363	-	-	-	-	-	-	-	-	-	-	LCA	-	RPGRIP1	RPGRIP1	2	1	Leen Abu Safieh
00033364	-	PubMed: Abu-Safieh 2013	-	-	-	Saudi Arabia	Arab	-	-	-	LCA	-	RPE65	RPE65	1	1	Leen Abu Safieh
00033381	-	-	-	?	?	? (unknown)	-	-	-	-	LCA	Bilateral contaract; keratoconus; Oculodigital Phenomena; Onset Visual loss, Nyctalopia	AIPL1	AIPL1	1	1	Raheel Qamar
00033382	-	-	-	?	?	? (unknown)	-	-	-	-	LCA	Bilateral plasties; Oculodigital Phenomena; Onset Visual loss	AIPL1	AIPL1	1	1	Raheel Qamar
00033383	-	-	-	M	?	-	Europe, north	-	-	-	LCA	foveal depression; Onset Visual disturbance, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033384	-	-	-	M	?	-	Europe, north	-	-	-	LCA	foveal depression; Onset Visual disturbance, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033386	-	-	-	?	?	? (unknown)	-	-	-	-	LCA	Pseudophakic; keratoconus; patches of periphral chorio retinal atrophy; Oculodigital Phenomena; Onset Visual loss, Nyctalopia;Photosensitivity	AIPL1	AIPL1	2	1	Raheel Qamar
00033388	-	-	-	M	no	Viet Nam	Vietnamese	-	-	-	LCA	Bilateral pigmentary degeneration; significant hyperopia with astigmatism.; Onset Roving nystagmus;sluggish pupils, andphotophobi	AIPL1	AIPL1	2	1	Raheel Qamar
00033389	-	-	-	M	no	Viet Nam	Vietnamese	-	-	-	LCA	Bluntedfoveal reflex; minimally attenuatedretinal vessels; andmildpigment dispersion with traces of finemottling; Onset Nystagmus, sluggish pupillary responses andmildhyperopiawith astigmatism	AIPL1	AIPL1	2	1	Raheel Qamar
00033396	-	-	-	?	?	Spain	-	-	-	-	LCA	Nystagmus; Onset Severe visual loss	AIPL1	AIPL1	2	1	Raheel Qamar
00033397	-	-	-	?	?	Spain	-	-	-	-	LCA	Nystagmus; Onset Severe visual loss	AIPL1	AIPL1	2	1	Raheel Qamar
00033405	-	-	-	?	no	-	white	-	-	-	LCA	Nystagmus; mildmottling of maculopathy; high myopia ; Onset Nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033406	-	-	-	-	no	-	Africa, north	-	-	-	LCA	-	AIPL1	AIPL1	2	1	Raheel Qamar
00033407	-	-	-	M	?	-	Swedish	-	-	-	LCA	foveal depression; Onset Visual disturbance, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033408	-	-	-	-	no	-	Africa, north	-	-	-	LCA	-	AIPL1	AIPL1	2	1	Raheel Qamar
00033409	-	-	-	F	?	-	Europe, north	-	-	-	LCA	Keratoconus; cataract; foveal depression; Onset Visual disturbance, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033410	-	-	-	M	?	-	Africa, north; Jewish	-	-	-	LCA	foveal depression; Onset Visual disturbance, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033412	-	-	-	?	-	? (unknown)	-	-	-	-	LCA	Retinal drunes like depositions; Oculodigital Phenomena; Onset Visual loss, Nyctalopia	AIPL1	AIPL1	2	1	Raheel Qamar
00033413	-	-	-	-	?	India	Indian	-	-	-	LCA	MildMaculopathy ; Onset Severe pigmentary retinopathy	AIPL1	AIPL1	2	1	Raheel Qamar
00033414	-	-	3 generation family,3 affected	M	yes	India	-	-	-	-	LCA	-	AIPL1	AIPL1	2	1	Raheel Qamar
00033415	-	-	3 generation family,3 affected	M	yes	India	-	-	-	-	LCA	-	AIPL1	AIPL1	2	1	Raheel Qamar
00033416	-	-	3 generation family,3 affected	F	yes	India	-	-	-	-	LCA	-	AIPL1	AIPL1	2	1	Raheel Qamar
00033417	-	-	-	M	no	? (unknown)	-	-	-	-	LCA	dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole;photoreceptors are absent; retinal gliosis was present; Headache andpain in eyes; Bilateral Nysgtagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033418	-	-	-	F	no	? (unknown)	-	-	-	-	LCA	dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole;photoreceptors are absent; retinal gliosis was present; Headache andpain in eyes; Bilateral Nysgtagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033419	-	-	-	?	yes	Pakistan	Pakistani	-	-	-	LCA	Nystagmus; moderate pigmentry retionopathy;maculopathy atrophy;disc pallor drusen; posterior subcapsular cataract; keratoconus; Onset Poor vision;nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033420	-	-	-	?	yes	Pakistan	Pakistani	-	-	-	LCA	Nystagmus; moderate pigmentry retionopathy;maculopathy atrophy;disc pallor drusen; posterior subcapsular cataract; keratoconus; Onset Poor vision;nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033421	-	-	2 generation family,1 affected	F	no	Bangladesh	-	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar
00033428	-	-	-	?	no	-	white	-	-	-	LCA	Nystagmus;moderate pigmentry retionpathy;maculopathy atrophy; drusen; presence of white retinal dots; posterior subcapsular cataract; moderate myopia; Onset Poor vision, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033429	-	-	3 generation family, 2 affected	M	?	France	-	-	-	-	LCA	-	AIPL1	AIPL1	2	2	Raheel Qamar
00033430	-	-	-	-	no	-	-	-	-	-	LCA	-	AIPL1	AIPL1	2	1	Raheel Qamar
00033433	-	-	-	M	no	? (unknown)	-	-	-	-	LCA	dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole; Headache andpain in eyes; Bilateral Nysgtagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033434	-	-	-	F	no	? (unknown)	-	-	-	-	LCA	dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole; Headache andpain in eyes; Bilateral Nysgtagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033435	-	-	-	?	?	- (not applicable)	-	-	-	-	LCA	Visual fieldchanges; ERG reduction; Onset Nystagmus,	AIPL1	AIPL1	2	1	Raheel Qamar
00033436	-	-	-	-	?	Belgium	-	-	-	-	LCA	mild maculopathy; absence of pigmentary retinopathy	AIPL1	AIPL1	2	1	Raheel Qamar
00033437	-	-	2 generation family,1 affected	F	no	Portugal	portugese	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar
00033440	-	-	-	?	-	? (unknown)	-	-	-	-	LCA	Pseudophakic; keratoconus; patches of periphral chorio retinal atrophy; Oculodigital Phenomena; Onset Visual loss, Nyctalopia, Photosensitivity, Atrophy of retinal pigment andchoroid, pigmentary clumping	AIPL1	AIPL1	2	1	Raheel Qamar
00033441	-	-	-	?	-	? (unknown)	-	-	-	-	LCA	Keratoconus; Bilateral Contaracts; Oculodigital Phenomena; Onset Visual loss, Nyctalopia;Photosensitivity	AIPL1	AIPL1	2	1	Raheel Qamar
00033446	-	-	3 generation family,1 affected	F	?	United States	African–American	-	-	-	LCA	-	AIPL1	AIPL1	2	1	Raheel Qamar
00033447	-	-	-	-	-	United States	-	-	-	-	LCA	Severe Maculopathy; Moderate pigmentary retinopathy	AIPL1	AIPL1	2	1	Raheel Qamar
00033448	-	-	-	-	-	France	-	-	-	-	LCA	Onset Severe pigmentary Retinopathy	AIPL1	AIPL1	2	1	Raheel Qamar
00033451	-	-	-	-	?	France	French	-	-	-	LCA	Onset Severe pigmentary Retinopathy	AIPL1	AIPL1	2	1	Raheel Qamar
00033460	-	-	-	?	yes	-	Arab	-	-	-	LCA	Nystagmus; moderate hyperopia; Onset Poor vision;nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033461	-	-	-	-	?	Palestine	Palestinian	-	-	-	LCA	MildMaculopathy; Onset Severe pigmentary retinopathy	AIPL1	AIPL1	2	1	Raheel Qamar
00033462	-	-	2 generation family 2 affectd, 2 carrier	M	no	Palestine	-	-	-	-	LCA	keratoconu; cataracts; pale optic discs;arteriolar attenuation andintraretinal pigment migration; Onset Night blindness	AIPL1	AIPL1	2	1	Raheel Qamar
00033463	-	-	2 generation family 2 affectd, 2 carrier	M	no	Palestine	-	-	-	-	LCA	keratoconu; cataracts; pale optic discs;arteriolar attenuation andintraretinal pigment migration; Onset Night blindness	AIPL1	AIPL1	2	1	Raheel Qamar
00033464	-	-	5 generation family,4 affected	M	no	Palestine	-	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar
00033465	-	-	5 generation family,4 affected	M	no	Palestine	-	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar
00033466	-	-	5 generation family,4 affected	M	yes	Palestine	-	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar
00033467	-	-	5 generation family,4 affected	F	yes	Palestine	-	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar
00033471	-	-	-	?	?	Morocco	-	-	-	-	LCA	Onset Severe pigmentary retinopathy	AIPL1	AIPL1	2	1	Raheel Qamar
00033472	-	-	-	?	no	-	Africa, north	-	-	-	LCA	-	AIPL1	AIPL1	2	1	Raheel Qamar
00033473	-	-	-	?	no	-	Africa, north	-	-	-	LCA	-	AIPL1	AIPL1	2	1	Raheel Qamar
00033474	-	-	4 generation family,4 affected	F	yes	Morocco	-	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar
00033475	-	-	4 generation family,4 affected	F	yes	Morocco	-	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar
00033476	-	-	4 generation family,4 affected	M	yes	Morocco	-	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar
00033477	-	-	4 generation family,4 affected	F	yes	Morocco	-	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar
00033486	-	-	-	-	-	United States	-	-	-	-	LCA	MildMaculopathy; Onset Severe pigmentary retinopathy	AIPL1	AIPL1	2	1	Raheel Qamar
00033492	-	-	2 generation family, 1 affected	F	?	-	-	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar
00033493	-	-	-	-	-	United States	-	-	-	-	LCA	MildMaculopathy; Onset Severe pigmentary retinopathy	AIPL1	AIPL1	2	1	Raheel Qamar
00033494	-	-	-	-	-	United States	-	-	-	-	LCA	MildMaculopathy	AIPL1	AIPL1	2	1	Raheel Qamar
00033495	-	-	-	M	?	-	Europe, north	-	-	-	LCA	Cataract; foveal depression; Onset Visual disturbance, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033496	-	-	-	F	?	-	Europe, north	-	-	-	LCA	Foveal depression; RPE pigmentation abnormalities; Onset Visual disturbance, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033498	-	-	-	?	-	? (unknown)	-	-	-	-	LCA	Bone specule like changes; Bull's eye appearence; Atrophic macular lesions; drusion like deposits; Oculodigital Phenomena; Onset Visual Loss, Severe pigmentary retinopathy, Atrophy of retinal pigment, mottling of hypopigmentation.	AIPL1	AIPL1	2	1	Raheel Qamar
00033499	-	-	-	F	?	-	Europe, north	-	-	-	LCA	Cataract; Melanin abnormalities; foveal depression; Onset Visual disturbance, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033500	-	-	-	F	?	-	Europe, north	-	-	-	LCA	RPE pigmentation abnormalities; foveal depression; Onset Visual disturbance, nystagmus	AIPL1	AIPL1	1	1	Raheel Qamar
00033501	-	-	-	M	?	-	Europe, north	-	-	-	LCA	Melanin abnormalities; foveal depression; Onset Visual disturbance, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033502	-	-	-	F	?	-	Europe, north	-	-	-	LCA	Cataract; retinal degeneration; foveal depression; Onset Visual disturbance, nystagmus, visual acuity, nyctalopia	AIPL1	AIPL1	2	1	Raheel Qamar
00033517	-	-	3 families, 10 affected	?	?	Pakistan	-	-	-	-	LCA	Severe keratoconus; poor acuity; macular atrophy	AIPL1	AIPL1	2	1	Raheel Qamar
00033518	-	-	3 families, 10 affected	?	?	Pakistan	-	-	-	-	LCA	Severe keratoconus; poor acuity; macular atrophy	AIPL1	AIPL1	2	1	Raheel Qamar
00033519	-	-	3 families, 10 affected	?	?	Pakistan	-	-	-	-	LCA	Severe keratoconus; poor acuity; macular atrophy	AIPL1	AIPL1	2	1	Raheel Qamar
00033520	-	-	-	F	no	-	Caucassian	-	-	-	LCA	Grossly intact extraocular movement; sluggishpupillary responses; normal intraocular pressure to palpation;andsevere hyperopia with astigmatism.; Onset Nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033521	-	-	-	?	no	-	Africa	-	-	-	LCA	Nystagmus; Moderate pigmentry retinopathy;bone spicules; mildmolting maculopathy; presence of white retinal dots;myopia; Onset Poor vision, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033522	-	-	-	?	no	-	white	-	-	-	LCA	Nystagmus; Moderate pigmentry retinopathy;bone spicules; maculopathy atrophy; Onset Poor vision, nystagmus	AIPL1	AIPL1	2	1	Raheel Qamar
00033523	-	-	2 generation family, 1 affected	F	?	-	-	-	-	-	LCA	?	AIPL1	AIPL1	2	1	Raheel Qamar

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Global Variome shared LOVD