All individuals with variants in gene RPE65

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.

1073 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	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00001786	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	1	1	Feng Wang
00024941	-	-	-	M	yes	India	Indian	-	-	-	-	LCA2	-	2	1	Kannabiran C
00033108	-	-	-	M	-	-	-	-	-	-	-	retinal disease	-	2	1	Kornelia Neveling
00033129	-	-	-	M	-	-	-	-	-	-	-	retinal disease	onset childhood; retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; tinnitus: BAE normal	2	1	Kornelia Neveling
00033359	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	Arab	-	-	-	-	retinal disease	-	1	1	Leen Abu Safieh
00033364	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	Arab	-	-	-	-	LCA	-	1	1	Leen Abu Safieh
00033680	-	-	-	-	yes	India	-	-	-	-	-	LCA	-	2	1	Chitra Kannabiran
00033720	-	-	-	F	no	India	India, south	-	-	-	-	LCA	-	2	1	Soumittra Nagasamy
00033721	-	-	-	F	yes	India	India, south	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00038064	-	PubMed: Vallespin 2007	-	?	?	Spain	Spanish	-	-	-	-	LCA	?	1	5	Frans Cremers
00052411	MIE#0034 (Case 1)	PubMed: Katagiri 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	no	Japan	Japanese	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, loss of vision and non-recordable ERG	3	1	Muhammad Ajmal
00052412	JU#0756 (Case 2)	PubMed: Katagiri 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives	F	no	Japan	Japan	-	-	-	-	LCA	Leber congenital amaurosis; night blindness, severe retinal degeneration and non-recordable ERG	1	1	Muhammad Ajmal
00052413	-	PubMed: Mo 2014	2-generation family, 1 affected	F	no	China	Chinese	-	-	-	-	RD	retinal dystrophy, early-onset, severe; mildly attenuated retinal vessels, some whitish dots, and numerous grayish deposits in the mid-peripheral retina	2	1	Muhammad Ajmal
00052414	-	PubMed: Ripamonti 2014	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052415	-	PubMed: Ripamonti 2014	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052416	-	PubMed: Ripamonti 2014	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052417	-	PubMed: Ripamonti 2014	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052418	-	PubMed: Ripamonti 2014	-	F	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052419	-	PubMed: Ripamonti 2014	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052420	-	PubMed: Ripamonti 2014	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052421	-	PubMed: Ripamonti 2014	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052422	-	PubMed: Ripamonti 2014	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052423	-	PubMed: Koenekoop 2014	-	M	?	India	Indian	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052424	-	PubMed: Koenekoop 2014	-	F	?	China	Chinese	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052425	-	PubMed: Koenekoop 2014	-	F	?	China	Chinese	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052426	-	PubMed: Koenekoop 2014	-	F	?	Syria	Syrian	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052427	-	PubMed: Koenekoop 2014	-	F	?	Brazil	Brazilian	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052428	-	PubMed: Koenekoop 2014	-	F	?	Brazil	Brazilian	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052429	-	PubMed: Koenekoop 2014	-	F	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052430	Pat7-1	PubMed: Khan 2014	-	M	?	Saudi Arabia	-	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, wandering eye movement and non-recordable ERG	1	2	Muhammad Ajmal
00052431	Pat7-2	PubMed: Khan 2014	-	M	?	Saudi Arabia	-	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, wandering eye movement and non-recordable ERG	1	1	Muhammad Ajmal
00052432	Pat8	PubMed: Khan 2014	-	M	?	Saudi Arabia	-	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, wandering eye movement and non-recordable ERG	2	1	Muhammad Ajmal
00052433	-	PubMed: Jakobsson 2014	-	M	yes	Yemen	Arab	-	-	-	-	LCA	Leber congenital amaurosis; cone-rod dystrophy, salt and pepper, bullʼs eye, optic disc pallor, attenuated retinal vessels, completely extinguished ERG	1	1	Muhammad Ajmal
00052434	-	PubMed: Jakobsson 2014	-	M	yes	Yemen	Arab	-	-	-	-	LCA	Leber congenital amaurosis; cone-rod dystrophy, salt and pepper, bullʼs eye, optic disc pallor, attenuated retinal vessels, completely extinguished ERG	1	1	Muhammad Ajmal
00052435	-	PubMed: Jakobsson 2014	-	F	yes	Yemen	Arab	-	-	-	-	LCA	Leber congenital amaurosis; cone-rod dystrophy, salt and pepper, bullʼs eye, optic disc pallor, attenuated retinal vessels, completely extinguished ERG	1	1	Muhammad Ajmal
00052436	-	PubMed: Verma 2013	-	M	no	India	South Indian	-	-	-	-	LCA	Leber congenital amaurosis; asymmetrical nystagmus, vascular attenuation, white pigmentation in the mid periphery	1	1	Muhammad Ajmal
00052437	-	PubMed: Verma 2013	-	F	yes	India	South Indian	-	-	-	-	LCA	Leber congenital amaurosis; asymmetrical pendular nystagmus, night blindness, vascular attenuation, disc pallor	1	1	Muhammad Ajmal
00052438	-	PubMed: Verma 2013	-	M	yes	India	South Indian	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus absent, night blindness, normal disc, mild vessel attenuation, PE mottling, white dot in the periphery	1	1	Muhammad Ajmal
00052439	-	PubMed: Verma 2013	-	F	yes	India	South Indian	-	-	-	-	LCA	Leber congenital amaurosis; latent jerky nystagmus, alternate exotropia, RPE mottling, vascular attenuation, salt & pepper pigmentation	1	1	Muhammad Ajmal
00052440	-	PubMed: Verma 2013	-	M	no	India	South Indian	-	-	-	-	LCA	Leber congenital amaurosis; asymmetrical pendular nystagmus, photophobia, night blindness, normal fundus	1	1	Muhammad Ajmal
00052441	-	PubMed: Kabir 2013	-	F	yes	Pakistan	Pakistani	-	-	-	-	RD	retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor	1	1	Muhammad Ajmal
00052442	-	PubMed: Kabir 2013	-	F	yes	Pakistan	Pakistani	-	-	-	-	RD	retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor	1	1	Muhammad Ajmal
00052443	-	PubMed: Kabir 2013	-	F	yes	Pakistan	Pakistani	-	-	-	-	RD	retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor	1	1	Muhammad Ajmal
00052444	-	PubMed: Kabir 2013	-	M	yes	Pakistan	Pakistani	-	-	-	-	RD	retinal dystrophy; night blindness, constriction of peripheral visual field, bone spicule formation in the fundus, attenuation of retinal arterioles, optic disc pallor	1	1	Muhammad Ajmal
00052445	-	PubMed: Kabir 2013	-	F	yes	Pakistan	Pakistani	-	-	-	-	CORD	cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected	1	1	Muhammad Ajmal
00052446	-	PubMed: Kabir 2013	-	M	yes	Pakistan	Pakistani	-	-	-	-	CORD	cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected	1	1	Muhammad Ajmal
00052447	-	PubMed: Kabir 2013	-	F	yes	Pakistan	Pakistani	-	-	-	-	CORD	cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected	1	1	Muhammad Ajmal
00052448	-	PubMed: Kabir 2013	-	F	yes	Pakistan	Pakistani	-	-	-	-	CORD	cone-rod dystrophy, advanced stage; bone spicules in the periphery of fundus with retinal attenuation of the blood vessels, rod and cone responses were not detected	1	1	Muhammad Ajmal
00052449	-	PubMed: Kabir 2013	-	M	yes	Pakistan	Pakistani	-	-	-	-	RD	retinal dystrophy	1	1	Muhammad Ajmal
00052450	-	PubMed: Kabir 2013	-	F	yes	Pakistan	Pakistani	-	-	-	-	RD	retinal dystrophy	1	1	Muhammad Ajmal
00052451	-	PubMed: Kabir 2013	-	F	yes	Pakistan	Pakistani	-	-	-	-	RD	retinal dystrophy	1	1	Muhammad Ajmal
00052452	-	PubMed: Jacobson 2012	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052453	-	PubMed: Jacobson 2012	-	F	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052454	-	PubMed: Jacobson 2012	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052455	-	PubMed: Jacobson 2012	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052456	-	PubMed: Jacobson 2012	-	F	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052457	-	PubMed: Jacobson 2012	-	F	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052458	-	PubMed: Jacobson 2012	-	F	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052459	-	PubMed: Jacobson 2012	-	F	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052460	-	PubMed: Jacobson 2012	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052461	-	PubMed: Jacobson 2012	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052462	-	PubMed: Jacobson 2012	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052463	-	PubMed: Jacobson 2012	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052464	-	PubMed: Jacobson 2012	-	F	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052465	-	PubMed: Jacobson 2012	-	F	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052466	-	PubMed: Jacobson 2012	-	F	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052467	-	PubMed: Li 2011	-	M	no	China	Han Chinese	-	-	-	-	LCA	Leber congenital amaurosis; poor vision, nystagmus, attenuated vessels, pigment deposit	1	1	Muhammad Ajmal
00052468	-	PubMed: Li 2011	-	M	no	China	Han Chinese	-	-	-	-	LCA	Leber congenital amaurosis; poor vision, photophobia, nystagmus, extinguished rod and cone ERG	1	1	Muhammad Ajmal
00052469	?/F05-II1	PubMed: Li 2011, PubMed: Li 2029	-	M	no	China	Han Chinese	-	-	-	-	LCA	Leber congenital amaurosis; poor vision, night blindness, attenuated vessels, carpet-like retinal degeneration, extinguished rod and cone ERG	2	1	Muhammad Ajmal
00052470	-	PubMed: Schatz 2011	-	F	no	-	?	-	-	-	-	?	fundus albipunctatus, night blindness since childhood	2	1	Muhammad Ajmal
00052471	-	PubMed: Coppieters 2010	-	F	no	Turkey	Turkish	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG	1	1	Muhammad Ajmal
00052472	-	PubMed: Coppieters 2010	-	M	no	Turkey	Turkish	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG	1	1	Muhammad Ajmal
00052473	-	PubMed: Coppieters 2010	-	F	no	Belgium	Belgian	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG	2	1	Muhammad Ajmal
00052474	-	PubMed: Coppieters 2010	-	F	no	Belgium	Belgian	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG	1	1	Muhammad Ajmal
00052475	-	PubMed: Coppieters 2010	-	F	no	Portugal	Portuguese	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG	2	1	Muhammad Ajmal
00052476	-	PubMed: Coppieters 2010	-	M	no	Belgium	Belgian	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG	1	1	Muhammad Ajmal
00052477	-	PubMed: Coppieters 2010	-	M	no	Belgium	Belgian	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG	2	1	Muhammad Ajmal
00052478	-	PubMed: Coppieters 2010	-	M	no	Belgium	Belgian	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG	2	1	Muhammad Ajmal
00052479	-	PubMed: Coppieters 2010	-	F	no	Belgium	Belgian	-	-	-	-	LCA	Leber congenital amaurosis; nystagmus, hypermetropia, non-recordable ERG	2	1	Muhammad Ajmal
00052480	-	-	-	?	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052481	-	-	-	?	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052482	-	-	-	?	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052483	-	-	-	?	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052484	-	-	-	?	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052485	-	-	-	?	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052486	-	-	-	?	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	2	1	Muhammad Ajmal
00052487	-	-	-	?	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis	1	1	Muhammad Ajmal
00052488	-	PubMed: Li 2009	-	M	yes	Saudi Arabia	Arab	-	-	-	-	RD	retinal dystrophy; clear lenses, hypermetropic, syneresis of vitreous, microrotatory infantile nystagmus, vertically oval discs, mild optic atrophy, vascular attenuation, peripheral pigmentation and no bone spicules, nonrecordable ERG	1	1	Muhammad Ajmal
00052489	-	PubMed: Li 2009	-	M	yes	Saudi Arabia	Arab	-	-	-	-	RD	retinal dystrophy; mild enophthalmos, clear lenses, clear vitreous, vertically oval discs, slightly hyperopic optic nerve fullness, decreased retinal light reflexes, minimal peripheral pigment changes, infantile nystagmus, nonrecordable ERG	1	1	Muhammad Ajmal
00052490	-	PubMed: Li 2009	-	F	yes	Saudi Arabia	Arab	-	-	-	-	RD	retinal dystrophy; enophthalmos, nystagmus, clear lenses, minimal peripheral pigmentary changes, decreased foveal light reflexes, hyperopic full discs and mild hyperemia, minimal astigmatism, nonrecordable ERG	1	1	Muhammad Ajmal
00052491	-	PubMed: Li 2009	-	M	yes	Saudi Arabia	Arab	-	-	-	-	RD	retinal dystrophy; micronystagmus, pigmentary granular dystrophy, foveal atrophy, disc atrophy, widespread vascular attenuation and grainy midperiphery	1	1	Muhammad Ajmal
00052492	-	PubMed: Li 2009	-	F	yes	Saudi Arabia	Arab	-	-	-	-	RD	retinal dystrophy; micronystagmus, spared macula, disc atrophy, vascular attenuation, sandy RPE degeneration from inside the arcade to the periphery	1	1	Muhammad Ajmal
00052493	-	PubMed: Li 2009	-	M	yes	Saudi Arabia	Arab	-	-	-	-	RD	retinal dystrophy; no nystagmus, vascular attenuation, disc pallor, midperiphery sandy depigmentation, night blindness	1	1	Muhammad Ajmal
00052494	-	PubMed: Li 2009	-	M	yes	Saudi Arabia	Arab	-	-	-	-	RD	retinal dystrophy; disc pallor, vessels attenuated, nonrecordable ERG	1	1	Muhammad Ajmal
00052495	-	PubMed: Li 2009	-	F	yes	Saudi Arabia	Arab	-	-	-	-	RD	retinal dystrophy; non-recordable ERG, disc pallor, neuroepithelial atrophy, nystagmus	1	1	Muhammad Ajmal
00052496	-	PubMed: Yzer 2006	-	?	no	-	European	-	-	-	-	LCA	Leber congenital amaurosis; night blindness, nystagmus, normal fundus, mild attenuation of retinal vasculature, hypopigmentation of RPE, diffuse RPE alterations	2	1	Muhammad Ajmal
00052497	-	PubMed: Seong 2008	-	?	?	Korea	Korean	-	-	-	-	LCA	Leber congenital amaurosis; night blindness, severe visual impairment, oculodigital signs, extinguished ERG	2	1	Muhammad Ajmal
00052498	-	PubMed: Hauswirth 2008	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis; severe visual abnormalities	1	1	Muhammad Ajmal
00052499	-	PubMed: Hauswirth 2008	-	F	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis; severe visual abnormalities	2	1	Muhammad Ajmal
00052500	-	PubMed: Hauswirth 2008	-	M	?	-	?	-	-	-	-	LCA	Leber congenital amaurosis; severe visual abnormalities	1	1	Muhammad Ajmal

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

Global Variome shared LOVD

RPE65 (retinal pigment epithelium-specific protein ...)