All individuals with variants in gene ELOVL4

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.

82 entries on 1 page. Showing entries 1 - 82.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00033089	FamG	PubMed: Van Huet 2014, PubMed: Neveling 2012	2-generation family, 2 affected (F, M)	F;M	yes	-	-	-	-	-	-	retinal disease	-	2	2	Kornelia Neveling
00033114	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	Kornelia Neveling
00033166	-	-	-	F	-	-	-	-	-	-	-	retinal disease	-	2	1	Kornelia Neveling
00300619	-	-	-	M	-	Germany	-	-	-	-	-	?	Abnormality of the eye (HP:0000478)	1	1	Andreas Laner
00333656	639	PubMed: Stone 2017	1 affected	M	-	(United States)	-	-	-	-	-	retinal disease	clinical category IB7	1	1	LOVD
00333729	910	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IID	1	1	LOVD
00333730	911	PubMed: Stone 2017	family, 69 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IID	1	69	LOVD
00358981	Case71718	PubMed: Tiwari 2016	see paper	F	-	Switzerland	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00362000	Pat3AB	PubMed: Duvvari 2016	patient	-	-	Netherlands	white	-	-	-	-	retinal disease	-	1	1	LOVD
00375659	Pat60	PubMed: Srivastava 2014	-	-	-	United States	-	-	-	-	-	?	intellectual disability/developmental delay; strabismus; dysarthria; hypotonia, dystonia, broad-based gait; MRI brain frontal lobe sulcal prominence, thin corpus callosum, thin superior cerebellar peduncle, prominent cerebellar foliation	1	1	Johan den Dunnen
00380097	?	PubMed: Kersten 2018	-	F	-	-	-	-	-	-	-	retinal disease	Large soft drusen throughout the macula	1	1	LOVD
00380337	-	PubMed: Strom-2012	-	M	-	United States	-	-	-	-	-	retinal disease	central vision loss and geographic atrophy in a perifoveal horseshoe pattern	1	1	LOVD
00380341	-	PubMed: Yi-2012	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380342	-	PubMed: Yi-2012	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380343	-	PubMed: Yi-2012	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382351	180	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00387590	-	PubMed: Palejwala 2016	-	F	-	-	-	-	-	-	-	retinal disease	-	1	2	LOVD
00387591	-	PubMed: Palejwala 2016	the first cousin of V1D and V1C,	F	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00390023	Sporadic case 2	PubMed: Hu 2020	-	M	?	China	-	-	-	-	-	STGD	Macular atrophy, hyper-reflective deposition, thinning of the retina in the macular area	1	1	Anna Tracewska
00390770	-	PubMed: Booij-2011	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00390892	-	PubMed: Maggi_2021	-	F	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00390910	-	PubMed: Maggi_2021	-	M	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00390919	-	PubMed: Maggi_2021	-	M	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00390943	-	PubMed: Maggi_2021	-	M	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395221	12/II.2	PubMed: Buhler 2021	Family 12, individual II.2	?	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395222	13/II.1	PubMed: Buhler 2021	Family 13, individual II.1	?	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395223	13/III.2	PubMed: Buhler 2021	Family 13, individual III.2	?	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395224	13/III.1	PubMed: Buhler 2021	Family 13, individual III.1	?	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395225	13/I.1	PubMed: Buhler 2021	Family 13, individual I.1	?	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395226	14/II.4	PubMed: Buhler 2021	Family 14, individual II.4	?	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395227	15/II.3	PubMed: Buhler 2021	Family 15, individual II.3	?	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395228	16/III.2	PubMed: Buhler 2021	Family 16, individual III.2	?	-	Switzerland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00395883	F088	PubMed: Chen 2021	-	?	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00396481	14	PubMed: Dockery 2017	no patient numbers in the paper, consecutive numbers given	?	-	Ireland	-	-	-	-	-	retinal disease	-	1	1	LOVD
00419221	?	PubMed: Bardak 2016	multiple indiviuals, homo- and heterozygous	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00419222	?	PubMed: Bardak 2016	multiple indiviuals, homo- and heterozygous	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00420447	F088	PubMed: Chen 2021	-	-	-	Taiwan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00426658	-	PubMed: Zhang 2001	-	-	-	-	European	-	-	-	-	retinal disease	decreased visual acuity and characteristic fundus appearance	1	1	LOVD
00426659	-	PubMed: Zhang 2001	-	-	-	-	European	-	-	-	-	retinal disease	decreased visual acuity and characteristic fundus appearance	1	1	LOVD
00426660	-	PubMed: Zhang 2001	-	-	-	-	European	-	-	-	-	retinal disease	decreased visual acuity and characteristic fundus appearance	1	1	LOVD
00426661	-	PubMed: Zhang 2001	-	-	-	-	Canadian	-	-	-	-	retinal disease	-	1	1	LOVD
00426662	-	PubMed: Zhang 2001	-	-	-	-	European	-	-	-	-	retinal disease	-	1	1	LOVD
00426663	II-8	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/400(RE) - 20/400(LE); Mild foveal pigment disruption with flecks.	2	1	LOVD
00426664	III-1	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/200(RE) - 20/200(LE); Foveal atrophy with flecks	2	1	LOVD
00426665	III-2	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	Healthy/Control	VA: 20/20(RE) - 20/25(LE); Normal	1	1	LOVD
00426666	III-3	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	Healthy/Control	VA: NA(RE) - NA(LE); Normal	2	1	LOVD
00426667	III-5	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/70(RE) - 20/50(LE); Butterfly pattern dystrophy, no flecks	2	1	LOVD
00426668	III-7	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/60(RE) - 20/50(LE); Butterfly pattern dystrophy, no flecks	2	1	LOVD
00426669	III-8	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	Healthy/Control	VA: 20/20(RE) - 20/15(LE); Normal	2	1	LOVD
00426670	III-9	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	Healthy/Control	VA: 20/15(RE) - 20/15(LE); Normal	1	1	LOVD
00426671	III-11	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/80(RE) - 20/80(LE); Foveal pigment disruption with flecks	2	1	LOVD
00426672	IV-1	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	Healthy/Control	VA: 20/15(RE) - 20/20(LE); Normal	1	1	LOVD
00426673	IV-2	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	Healthy/Control	VA: 20/15(RE) - 20/15(LE); Normal	1	1	LOVD
00426674	IV-3	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/80(RE) - 20/70(LE); Beaten metal macula, no flecks	3	1	LOVD
00426675	IV-4	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/200(RE) - 20/200(LE); Beaten metal macula with flecks	3	1	LOVD
00426676	IV-5	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/200(RE) - 20/200(LE); Foveal pigment disruption with flecks	2	1	LOVD
00426677	IV-6	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/200(RE) - 20/200(LE); Foveal atrophy with flecks	2	1	LOVD
00426678	IV-7	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/70(RE) - 20/80(LE); Butterfly pattern dystrophy, no flecks	2	1	LOVD
00426679	IV-9	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/100(RE) - 20/100(LE); Foveal pigment disruption, no flecks	2	1	LOVD
00426680	IV-10	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	retinal disease	VA: 20/40(RE) - 20/20(LE); Bulls-eye fovea, no flecks	2	1	LOVD
00426681	IV-12	PubMed: Bernstein 2001	-	-	-	United States	-	-	-	-	-	Healthy/Control	VA: 20/25(RE) - 20/25(LE); Normal	3	1	LOVD
00426682	-	PubMed: Rivolta 2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00426683	-	PubMed: Rivolta 2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00426684	-	PubMed: Rivolta 2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	15	LOVD
00426685	-	PubMed: Rivolta 2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00426686	-	PubMed: Rivolta 2003	-	-	-	-	-	-	-	-	-	retinal disease	-	1	12	LOVD
00426687	XI:1	PubMed: Vrabec 2003	proband	-	-	-	-	-	-	-	-	retinal disease	macular atrophy with a beaten bronze appearance and perifoveal flecks	1	1	LOVD
00426688	X:1	PubMed: Vrabec 2003	mother of XI:1	-	-	-	-	-	-	-	-	retinal disease	marked foveal atrophy	1	1	LOVD
00426689	XII:1	PubMed: Vrabec 2003	daughter of XI:1	-	-	-	-	-	-	-	-	retinal disease	mild foveal atrophy	1	1	LOVD
00426690	III:2	PubMed: Maugeri 2004	proband	F	-	Belgium	Belgian	-	-	-	-	retinal disease	VA: 20/400(OD) - 20/400(OS); Macular pigmentary changes, perimacular yellow flecks; Macular RPE window	1	1	LOVD
00426691	IV:1	PubMed: Maugeri 2004	daughter of III:2	F	-	Belgium	Belgian	-	-	-	-	retinal disease	VA: 20/400(OD) - 20/400(OS); Macular pigmentary changes, progressive increase of yellow flecks in the posterior pole; Macular RPE window	1	1	LOVD
00426692	III-12	PubMed: Lai 2005	-	M	-	China	Chinese	-	-	-	-	retinal disease	maculopathy; abnormal cone-derived and rod-derived responses	1	1	LOVD
00426695	IV-1	PubMed: Mir 2014	-	-	-	Pakistan	Pakistani	-	-	-	-	retinal disease	dry skin, erythematous and hyperkeratotic with scales present on lips, tip of the nose, ear pinna, legs, matacarpophalangeal joints and feet; tortuous vessels in the macular area with subtle macular changes	1	1	LOVD
00426696	IV-2	PubMed: Mir 2014	-	-	-	Pakistan	Pakistani	-	-	-	-	retinal disease	dry skin, erythematous and hyperkeratotic with scales present on lips, tip of the nose, ear pinna, legs, matacarpophalangeal joints and feet; Intellectual disability and spastic quadriplegia	1	1	LOVD
00426697	IV-5	PubMed: Mir 2014	-	-	-	Pakistan	Pakistani	-	-	-	-	retinal disease	dry skin, erythematous and hyperkeratotic with scales present on lips, tip of the nose, ear pinna, legs, matacarpophalangeal joints and feet; tortuous vessels in the macular area with subtle macular changes	1	1	LOVD
00426698	II:2	PubMed: Tran 2016	-	M	-	Switzerland	Swiss	-	-	-	-	retinal disease	bull?s eye maculopathy or geographic retinal pigment epithelium atrophy with or without subretinal flecks; generalized cone dysfunction without rod involvement; central scotoma correlating with central areolar non-functional chorioretinal	1	1	LOVD
00426699	II:1, I:1	PubMed: Tran 2016	-	F	-	Switzerland	Swiss	-	-	-	-	retinal disease	-	1	2	LOVD
00426700	-	PubMed: Donato 2018	-	M	-	-	Caucasian	-	-	-	-	retinal disease	VA:1.6/10(RE) - 2/10(LE); peripheral visual field was well represented, while the central one was almost absent; initial loss of color vision, photophobia, and a slow dark adaptation; bilateral anatrophic, rounded maculopathy with sharp edges, surrounded by pisciform flecks; mottled areas of hyperautofluorescence and hypoautofluorescence, corresponding to areas of lipofuscin accumulation and RPE atrophy...	2	1	LOVD
00426701	-	PubMed: Bardak 2016	-	-	-	-	-	-	-	-	-	retinal disease	-	3	30	LOVD
00426702	-	PubMed: Bardak 2016	-	-	-	-	-	-	-	-	-	Healthy/Control	-	3	1	LOVD
00450838	072164	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00450839	072296	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin

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Global Variome shared LOVD

ELOVL4 (ELOVL fatty acid elongase 4)