All individuals with variants in gene LCA5

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.

175 entries on 2 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2		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
00059789	-	PubMed: Abu-Safieh-2013	-	-	-	-	-	-	-	-	-	RP	-	1	1	Leen Abu Safieh
00059835	-	PubMed: Ahmad et al 2011	-	F	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059836	-	PubMed: Ahmad et al 2011	-	F	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059837	-	PubMed: Ahmad et al 2011	-	F	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059838	-	PubMed: Ahmad et al 2011	-	M	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059839	-	PubMed: Gerber et al 2007	-	F	yes	Algeria	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059840	-	PubMed: Gerber et al 2007	-	M	yes	Algeria	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059841	-	PubMed: Gerber et al 2007	-	M	yes	Algeria	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059842	-	PubMed: Gerber et al 2007	-	M	yes	Algeria	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059843	-	PubMed: Gerber et al 2007	-	F	yes	Algeria	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059844	-	PubMed: Gerber et al 2007	-	F	yes	Algeria	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059845	-	PubMed: Gerber et al 2007	-	F	yes	Morocco	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059846	-	PubMed: Ramprasad et al 2008	-	F	no	India	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059847	-	PubMed: Hollander et al 2007	-	M	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059848	-	PubMed: Hollander et al 2007	-	M	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059849	-	PubMed: Hollander et al 2007	-	M	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059850	-	PubMed: Hollander et al 2007	-	M	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059851	-	PubMed: Hollander et al 2007	-	M	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059852	-	PubMed: Hollander et al 2007	-	M	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059853	-	PubMed: Hollander et al 2007	-	M	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059854	-	PubMed: Hollander et al 2007	-	M	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059855	-	PubMed: Hollander et al 2007	-	M	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059856	-	PubMed: Hollander et al 2007	-	F	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059857	-	PubMed: Hollander et al 2007	-	F	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059858	-	PubMed: Hollander et al 2007	-	F	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059859	-	PubMed: Hollander et al 2007	-	F	yes	Pakistan	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059860	-	PubMed: Hollander et al 2007	-	F	yes	Morocco	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059861	-	PubMed: Hollander et al 2007	-	F	no	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059862	-	PubMed: Hollander et al 2007	1 familie, 2 patients	F	yes	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059863	-	PubMed: Hollander et al 2007	-	M	yes	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059864	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059865	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	-	-	-	-	-	-	?	-	1	1	Frans Cremers
00059866	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059867	-	PubMed: Mackay 2013, Journal: Mackay 2013	4-generation family, 3 affecteds (F, 2M), unaffected heterozygous carriers	F;M	yes	-	-	-	-	-	-	LCA5	-	1	3	Frans Cremers
00059868	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059869	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059870	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	Mexico	Mexican	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059871	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059872	-	-	-	-	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059873	-	-	-	-	-	-	Slovakian/Romani	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059874	-	-	-	-	-	-	Indian / Mauritian	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059875	-	-	-	-	-	Iran	Iraqi	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059876	-	-	-	-	-	Spain	Spanish	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059877	-	-	-	-	-	Spain	Spanish	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059879	-	-	-	-	-	United States	American	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059880	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	United Kingdom (Great Britain)	British, white	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059881	-	-	-	-	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059882	-	-	-	-	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00059883	-	-	-	-	-	-	-	-	-	-	-	RPar	-	1	1	Frans Cremers
00059884	-	-	-	-	-	-	-	-	-	-	-	RPar	-	1	1	Frans Cremers
00059885	-	-	-	-	-	-	-	-	-	-	-	RPar	-	1	1	Frans Cremers
00059886	-	-	1 familie, 1 patient	?	yes	Spain	Spain	-	-	-	-	LCA	-	1	1	Leen Abu Safieh
00059887	-	-	-	?	yes	Spain	-	-	-	-	-	LCA	-	1	1	Leen Abu Safieh
00059917	-	-	1 familie, 1 patient	F	?	China	-	-	-	-	-	LCA	-	1	1	Amy Turriff
00059918	-	PubMed: Corton 2014, Journal: Corton 2014	1 family, 3 affecteds, unaffected heterozygous carriers	M	yes	Spain	-	-	-	-	-	LCA	see paper for details	1	1	Marta Corton
00059919	-	PubMed: Corton 2014, Journal: Corton 2014	-	F	?	Spain	-	-	-	-	-	LCA	for details see paper	1	1	Marta Corton
00059920	-	PubMed: Corton 2014, Journal: Corton 2014	1 family, 2 patients	M	yes	Spain	-	-	-	-	-	LCA	for details see paper	1	1	Marta Corton
00059921	-	PubMed: Corton 2014, Journal: Corton 2014	-	M	yes	Spain	-	-	-	-	-	LCA	for details see paper	1	1	Marta Corton
00059922	-	PubMed: Corton 2014, Journal: Corton 2014	-	M	yes	Spain	-	-	-	-	-	LCA	for details see paper	1	1	Marta Corton
00059926	-	-	family, 1 patient	F	yes	India	South India	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00059927	-	-	family, 1 patient	M	no	India	North India	-	-	-	-	LCA	-	1	1	Soumittra Nagasamy
00060157	-	PubMed: Wiszniewski et al 2010	-	?	?	United States	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00060158	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00060159	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	-	-	-	-	-	-	LCA5	-	2	1	Frans Cremers
00060160	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00060161	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	-	-	-	-	-	-	LCA5	-	2	1	Frans Cremers
00060162	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	-	-	-	-	-	-	LCA5	-	2	1	Frans Cremers
00060163	-	-	-	?	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00060164	-	-	-	?	?	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00060165	-	-	-	-	-	-	-	-	-	-	-	LCA5	-	1	1	Frans Cremers
00060166	-	-	-	-	-	-	-	-	-	-	-	LCA5	-	2	1	Frans Cremers
00060167	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	United Kingdom (Great Britain)	British, white	-	-	-	-	LCA5	-	2	1	Frans Cremers
00060168	-	-	-	-	-	China	Chinese	-	-	-	-	LCA5	-	2	1	Frans Cremers
00060169	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	?	China	Chinese	-	-	-	-	LCA5	-	2	1	Frans Cremers
00060170	-	-	-	-	-	United States	American	-	-	-	-	LCA5	-	1	1	Frans Cremers
00060171	-	-	-	-	-	United States	American	-	-	-	-	LCA5	-	1	1	Frans Cremers
00060172	-	PubMed: Mackay 2013, Journal: Mackay 2013	-	-	-	Taiwan	Taiwanese	-	-	-	-	LCA5	-	2	1	Frans Cremers
00060173	-	-	-	-	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00060202	-	PubMed: Corton 2014, Journal: Corton 2014	-	M	no	Spain	-	-	-	-	-	LCA	for details see paper	1	1	Marta Corton
00060203	-	PubMed: Corton 2014, Journal: Corton 2014	-	F	no	Spain	-	-	-	-	-	LCA	for details see paper	2	1	Marta Corton
00063827	-	PubMed: Mackay 2013, Journal: Mackay 2013	6-generation family, 3 affecteds (3M), unaffected heterozygous carriers	M	yes	-	-	-	-	-	-	LCA5	-	1	3	Johan den Dunnen
00095952	61058	PubMed: Li 2017	-	F	?	Pakistan	Pakistani	-	-	-	-	RD	early onset RD, progressive	1	1	James Hejtmancik
00100070	61078	PubMed: Li 2017	-	F	no	Pakistan	Pakistani	-	-	-	-	RD	early onset RD	1	1	James Hejtmancik
00155491	-	Sharon, submitted	-	F	no	Israel	Jewish	-	-	-	-	LCA	-	1	1	Dror Sharon
00155492	-	Sharon, submitted	-	F	no	Israel	Jewish-Ashkenazi	-	-	-	-	LCA	-	1	1	Dror Sharon
00155493	-	Sharon, submitted	-	M	yes	Israel	Druze	-	-	-	-	LCA	-	1	1	Dror Sharon
00294209	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	9	Mohammed Faruq
00309214	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309215	-	PubMed: Sharon 2019	3 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	3	Global Variome, with Curator vacancy
00309216	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309885	-	-	-	F	-	-	-	-	-	-	-	?	Visual loss (HP:0000572); Cone/cone-rod dystrophy (HP:0000548)	2	1	Andreas Laner
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)	1	2	Lance P Doucette
00327947	B240087	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	-	1	1	LOVD
00328028	G001303	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328141	G005542	PubMed: Carss 2017	-	M	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328245	G008987	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00332352	Fam1894	PubMed: Thompson 2017	family, 2 affected	-	-	Australia	-	-	-	-	-	retinal disease	see paper; ...	1	2	LOVD
00333360	Pat14	PubMed: Costa 2017	-	M	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333364	Pat4	PubMed: Costa 2017	-	F	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333429	RD6–02	PubMed: Wang 2017	-	-	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD

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Global Variome shared LOVD

LCA5 (Leber congenital amaurosis 5)