All individuals with variants in gene PDE6C

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.

133 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
00229591	-	-	-	F	-	-	-	-	-	-	-	?	HP:0011516 (Achromatopsia)	1	1	IMGAG
00290176	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	10	Mohammed Faruq
00308378	CIC07299	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308397	CIC05218	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00308398	CIC02712	PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019	-	-	-	France	-	-	-	-	-	retinal disease	-	2	1	Global Variome, with Curator vacancy
00308662	-	PubMed: Kim 2019	-	-	-	Korea	-	-	-	-	-	retinal disease	-	2	1	Global Variome, with Curator vacancy
00309295	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00309296	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00327969	G000974	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328117	G005239	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Europe	-	-	-	-	retinal disease	-	2	1	LOVD
00328250	G008996	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00331727	Pat16	PubMed: Matet 2018	-	M	yes	-	Africa-North	-	-	-	-	retinal disease	see paper; ..., detailed analysis	1	1	LOVD
00332280	Fam13PatFBP_35	PubMed: Porto 2017	proband	-	-	Brazil	-	-	-	-	-	retinal disease	-	1	1	LOVD
00332469	Pat39	PubMed: Di Iorio 2017	-	-	-	Italy	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00333365	Pat7	PubMed: Costa 2017	-	F	-	Brazil	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00335225	Fi15/08	PubMed: Riera 2017	patient	-	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00359022	12003493	PubMed: Ellingford 2016	patient	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00362144	QT5	PubMed: Huang 2013, PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00362145	QT677	PubMed: Huang 2013, PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00362146	QT1070	PubMed: Huang 2016	-	-	-	China	-	-	-	-	-	retinal disease	-	2	1	Johan den Dunnen
00362925	CHRO865	PubMed: Weisschuh 2016	family	-	-	Germany	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00363374	HM482	PubMed: Sun 2015	proband	-	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00363606	09DG01589	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363632	10DG1574	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00363697	12DG1034	PubMed: Patel 2016	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	non-syndromic	1	1	LOVD
00378005	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00378006	-	PubMed: Thiadens_2012	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00378055	IR_SH_0035	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	ACHM	HP:0001141, HP:0000613, HP:0001129, HP:0000639, HP:0000551, HP:0000007, HP:0011516	2	1	Jinu Han
00379643	IR_GH_0025	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	ACHM	HP:0030515, HP:0000613, HP:0001129, HP:0000007, HP:0000639, HP:0011516	2	1	Jinu Han
00379683	IR_GH_0074	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	ACHM	HP:0030515, HP:0000613, HP:0001129, HP:0000639, HP:0000551, HP:0000007, HP:0011516	2	1	Jinu Han
00380088	IR_GH_0178	-	-	M	-	Korea, South (Republic)	-	-	-	-	-	CORD	HP:0030515, HP:0000613, HP:0001123, HP:0000639, HP:0000551, HP:0000548	2	1	Jinu Han
00380854	1	PubMed: Abdelkader 2018	-	M	yes	-	-	-	-	-	-	retinal disease	VA OD 20/200, VA OS 20/200	1	1	LOVD
00380859	6	PubMed: Abdelkader 2018	-	F	yes	-	-	-	-	-	-	retinal disease	VA OD 20/200, VA OS 20/200	1	1	LOVD
00381142	-	PubMed: Sundaram_2014	-	M	-	-	-	-	-	-	-	retinal disease	-	1	1	Julia Lopez
00382332	161	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00383508	?	PubMed: Kim 2019	-	?	-	Korea, South (Republic)	-	-	-	-	-	retinal disease	-	2	1	LOVD
00384212	066884	PubMed: Tayebi 2019	-	-	-	Iran	-	-	-	-	-	retinal disease	-	1	1	LOVD
00384453	14639	PubMed: Wang 2019	-	M	-	China	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386174	RPN-287	PubMed: Rodriguez-Munoz 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386205	RPN-325	PubMed: Rodriguez-Munoz 2020	-	?	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386273	RPN-148	PubMed: Rodriguez-Munoz 2020	family fRPN-58, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386284	RPN-230	PubMed: Rodriguez-Munoz 2020	family fRPN-97, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00389781	1065	PubMed: Weisschuh 2020	Filing key number: 667, cone-rod dystrophy, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389917	1201	PubMed: Weisschuh 2020	Filing key number: 905, achromatopsia, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389918	1202	PubMed: Weisschuh 2020	Filing key number: 905, achromatopsia, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389984	1268	PubMed: Weisschuh 2020	Filing key number: 1079, achromatopsia, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00390340	G000974	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	1	1	LOVD
00390341	G005239	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	(United Kingdom (Great Britain))	-	-	-	-	-	retinal disease	-	2	1	LOVD
00390342	G008996	PubMed: Turro 2020	only individuals with mutations in retinal disease genes from this publication were inserted into LOVD	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00390955	-	PubMed: Maggi_2021	-	M	-	Switzerland	-	-	-	-	-	retinal disease	-	2	1	LOVD
00391381	49	{PMID:Méjécase 2020:3278337	-	?	-	United Arab Emirates	-	-	-	-	-	retinal disease	-	1	1	LOVD
00391827	PCI-008	PubMed: Langlo 2014	-	F	-	United States	-	-	-	-	-	retinal disease	see paper; ...	1	1	Johan den Dunnen
00391923	9007	PubMed: Sun 2020	early childhood onset defined as younger than 8y	M	-	China	-	-	-	-	-	retinal disease	Best corrected visual acuity right/left eye: 0.1/0.1	2	1	LOVD
00391924	8430	PubMed: Sun 2020	-	F	-	China	-	-	-	-	-	retinal disease	fundus: normal, electroretinogram responses: rod: moderately reduced, cone: extinguished	2	1	LOVD
00391925	16648	PubMed: Sun 2020	-	F	-	China	-	-	-	-	-	retinal disease	optical coherence tomography: macular atrophy	2	1	LOVD
00391926	17031	PubMed: Sun 2020	-	M	-	China	-	-	-	-	-	retinal disease	Best corrected visual acuity right/left eye: 0.15/0.15, fundus: normal, electroretinogram responses: rod: moderately reduced, cone: extinguished, optical coherence tomography: lost ellipsoid zone	2	1	LOVD
00391927	19249	PubMed: Sun 2020	-	M	-	China	-	-	-	-	-	retinal disease	Best corrected visual acuity right/left eye: 0.15/0.15, fundus: normal	2	1	LOVD
00391928	15771	PubMed: Sun 2020	early childhood onset defined as younger than 8y	M	-	China	-	-	-	-	-	retinal disease	Best corrected visual acuity right/left eye: 0.1/0.1, fundus: examination not available, electroretinogram responses: rod: mildly reduced, cone: extinguished,	1	1	LOVD
00391929	20669	PubMed: Sun 2020	-	M	-	China	-	-	-	-	-	retinal disease	Best corrected visual acuity right/left eye: 0.2/0.2, fundus: attenuated retinal arterioles, electroretinogram responses: rod: normal, cone: extinguished,	2	1	LOVD
00393985	-	PubMed: Brunetti-Pierri_2021	-	-	yes	-	Italian	-	-	-	-	retinal disease	-	2	1	LOVD
00398774	16	PubMed: Matet 2018	-	M	yes	France	Northern African	-	-	-	-	retinal disease	-	2	1	LOVD
00416059	AII-1	PubMed: Thiadens 2009	-	-	-	-	-	-	-	-	-	retinal disease	age at first exam (y): 6, age at last exam: 51; best corrected visual acuity best eye 1st exam: 0.4, last exam: 0.16; visual complaints: photophobia: yes ,nystagmus: yes; refractive error spherical equivalent: -11; color vision defects 1st anot determined last exam: severe; macular appearance 1st exam: no foveal reflex, last exam: mild pigmentary changes; periphery last exam: normal; cone electroretinogram 1st exam: reduced, last exam: no responses	1	1	LOVD
00416060	AII-2	PubMed: Thiadens 2009	-	-	-	-	-	-	-	-	-	retinal disease	age at first exam (y): 7, age at last exam: 47; best corrected visual acuity best eye 1st exam: 0.3, last exam: 0.2; visual complaints: photophobia: yes ,nystagmus: yes; refractive error spherical equivalent: -3.5; color vision defects 1st exam: severe; macular appearance 1st exam: pigmentary changes, last exam: pigmentary changes; periphery last exam: normal; cone electroretinogram: reduced, last exam: no responses	1	1	LOVD
00416061	BII-1	PubMed: Thiadens 2009	-	-	yes	-	-	-	-	-	-	retinal disease	age at first exam (y): 7, age at last exam: 23; best corrected visual acuity best eye 1st exam: 0.16, last exam: 0.1; visual complaints: photophobia: no ,nystagmus: yes; refractive error spherical equivalent: -10; color vision defects 1st exam: severe; macular appearance 1st exam: mild pigmentary changes, last exam: mild pigmentary changes; periphery last exam: normal; cone electroretinogram: not determined, last exam: not determined	1	1	LOVD
00416062	BII-2	PubMed: Thiadens 2009	-	-	yes	-	-	-	-	-	-	retinal disease	age at first exam (y): 10, age at last exam: 20; best corrected visual acuity best eye 1st exam: 0.16, last exam: 0.1; visual complaints: photophobia: no ,nystagmus: yes; refractive error spherical equivalent: -2; color vision defects 1st exam: severe; macular appearance 1st exam: no foveal reflex, last exam: no foveal reflex; periphery last exam: normal; cone electroretinogram: reduced, last exam: reduced	1	1	LOVD
00416063	CII-1	PubMed: Thiadens 2009	-	-	-	-	-	-	-	-	-	retinal disease	age at first exam (y): 2, age at last exam: 4; best corrected visual acuity best eye 1st exam: 0.1, last exam: 0.1; visual complaints: photophobia: severe ,nystagmus: yes; refractive error spherical equivalent: 10.5; color vision defects 1st exam: severe; macular appearance 1st exam: no foveal reflex, last exam: no; periphery last exam: normal; cone electroretinogram: no responses, last exam: no responses	2	1	LOVD
00416064	DII-1	PubMed: Thiadens 2009	-	-	-	-	-	-	-	-	-	retinal disease	age at first exam (y): 12, age at last exam: 37; best corrected visual acuity best eye 1st exam: 0.16, last exam: 0.1; visual complaints: photophobia: severe ,nystagmus: yes; refractive error spherical equivalent: -5; color vision defects 1st exam: severe; macular appearance 1st exam: no foveal reflex, last exam: mild; periphery last exam: normal; cone electroretinogram: no responses, last exam: no responses	2	1	LOVD
00416065	DII-2	PubMed: Thiadens 2009	-	-	-	-	-	-	-	-	-	retinal disease	age at first exam (y): 11, age at last exam: 36; best corrected visual acuity best eye 1st exam: 0.16, last exam: 0.1; visual complaints: photophobia: severe ,nystagmus: yes; refractive error spherical equivalent: -1.5; color vision defects 1st exam: severe; macular appearance 1st exam: no foveal reflex, last exam: no; periphery last exam: normal; cone electroretinogram: no responses, last exam: no responses	2	1	LOVD
00416108	CHRO 9_II:3	PubMed: Chang 2009	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.08/0.08; congenital nystagmus was reported that still persists; myopic with a refraction error (SE) of -7.38/ -7.38; complete lack of color discrimination on various test platforms; central scotoma consistent with a loss of multifocal electroretinogram responses for central test fields; electroretinograms: extinguished responses under photopic and 30-Hz flicker stimulation, scotopic electroretinogram responses essentially normal.; funduscopy: atrophy of the retinal pigment epithelium in the macula - atypical feature in patients with achromatopsia, rather a clinical feature in patients with progressive cone dystrophy	2	1	LOVD
00416109	CHRO 9_II:4	PubMed: Chang 2009	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.08/0.1; congenital nystagmus was reported that still persists; myopic with a refraction error (SE) of -8.00/ -7.38; complete lack of color discrimination on various test platforms; central scotoma consistent with a loss of multifocal electroretinogram responses for central test fields; electroretinograms: extinguished responses under photopic and 30-Hz flicker stimulation, scotopic electroretinogram responses essentially normal.; funduscopy: atrophy of the retinal pigment epithelium in the macula - atypical feature in patients with achromatopsia, rather a clinical feature in patients with progressive cone dystrophy	2	1	LOVD
00416110	CHRO 102_II:1	PubMed: Chang 2009	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00416111	CHRO 102_II:2	PubMed: Chang 2009	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00416112	CHRO 287	PubMed: Chang 2009	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00416113	CHRO 572	PubMed: Chang 2009	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00416115	CHRO319/II1;Pat81	PubMed: Grau 2011, PubMed: Andersen 2023	-	-	-	Denmark	-	-	-	-	-	retinal disease	fundus/macular appearance: normal with preserved foveal reflex ; cone electroretinogram: flat; rod electroretinogram: normal; photophobia: yes; nystagmus: yes; best corrected visual acuity right, left eye: 0.2; color vision defects: severe; involved color axis: scotopic; refractive error: -6.50, -6.50; progression: no	2	1	LOVD
00416116	CHRO 403/II:1	PubMed: Grau 2011	-	-	-	-	-	-	-	-	-	retinal disease	fundus/macular appearance: no aberration; cone electroretinogram: flat; rod electroretinogram: normal; photophobia: yes; nystagmus: yes; best corrected visual acuity right, left eye: 0.2; color vision defects: severe; involved color axis: no interpretation possible; refractive error: no data; progression: no data	1	1	LOVD
00416117	CHRO 403/II:2	PubMed: Grau 2011	-	-	-	-	-	-	-	-	-	retinal disease	fundus/macular appearance: no aberration; cone electroretinogram: flat; rod electroretinogram: normal; photophobia: yes; nystagmus: yes; best corrected visual acuity right, left eye: 0.2; color vision defects: severe; involved color axis: no interpretation possible; refractive error: no data; progression: no data	1	1	LOVD
00416118	CHRO 403/II:3	PubMed: Grau 2011	-	-	-	-	-	-	-	-	-	retinal disease	fundus/macular appearance: no aberration; cone electroretinogram: no data; rod electroretinogram: no data; photophobia: yes; nystagmus: yes; best corrected visual acuity right, left eye: 0.4; color vision defects: no data; involved color axis: no data; refractive error: no data; progression: no data	1	1	LOVD
00416119	CHRO 573/II:1	PubMed: Grau 2011	-	-	-	-	-	-	-	-	-	retinal disease	fundus/macular appearance: normal with preserved foveal reflex ; cone electroretinogram: flat; rod electroretinogram: normal; photophobia: yes; nystagmus: congenital; best corrected visual acuity right, left eye: 0.1; color vision defects: severe; involved color axis: scotopic; refractive error: -0.75, -0.75; progression: no	1	1	LOVD
00416120	CHRO 573/II:2	PubMed: Grau 2011	-	-	-	-	-	-	-	-	-	retinal disease	fundus/macular appearance: normal with preserved foveal reflex ; cone electroretinogram: no data; rod electroretinogram: normal; photophobia: yes; nystagmus: congenital; best corrected visual acuity right, left eye: 0.1; color vision defects: no data; involved color axis: no data; refractive error: -1.5, -1.00; progression: no	1	1	LOVD
00416122	IV:1	PubMed: Katagiri 2015	sister of IV:2; parents first cousins	F	-	-	-	-	-	-	-	retinal disease	clinical features from 7y to 21y described in Hayashi et al, 2004; best corrected visual acuity right, left eye: 0.2, 0.1 (with moderate myopia) ; funduscopy: atrophic chorioretinal macular scarring in the right eye and macular atrophy in the left eye; fundus autofluorescence: complete loss of autofluorescence in the macular lesions of both eyes; optical coherence tomography: macular thinning of all layers in both eyes and retinal and choroidal excavation in the right eye; 31y, visual field: bilateral central scotomas (5-10 degrees, broadened slightly relative to that at 11 years of age) of the I-3e or I-2e isopters; peripheral visual fields of the I-5e and I-4e isopters normal;	1	1	LOVD
00416123	IV:2	PubMed: Katagiri 2015	brother of IV:1; parents first cousins	M	-	-	-	-	-	-	-	retinal disease	clinical features from 5y to 18y described in Hayashi et al, 2004; best corrected visual acuity: 0.2 (with high hyperopia) in each eye; funduscopy: atrophic macular changes in both eyes; fundus autofluorescence: hyper-autofluorescent areas of the maculas in both eyes; optical coherence tomography: retinal thinning with loss of the outer retinal layer in each macula; visual field: bilateral central scotomas (5 degrees, little change in the visual field between 26 and 12 years of age) of the I-3e or I-2e isopters, but the peripheral visual fields of the I-5e and I-4e isopters normal	1	1	LOVD
00416129	1-1	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.2/0.3; electroretinogram signals, scotopic: normal, photopic: absent; color vision: impaired; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: yes, at present: not available; photophobia: yes	1	1	LOVD
00416130	1-2	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.2 both eyes; electroretinogram signals, scotopic: not available, photopic: not available; color vision: impaired; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: yes, at present: yes; photophobia: yes	1	1	LOVD
00416131	2	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.6 both eyes; electroretinogram signals, scotopic: normal, photopic: severely reduced; color vision: impaired; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: no, at present: no; photophobia: yes	2	1	LOVD
00416132	3	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: not available ; electroretinogram signals, scotopic: normal, photopic: absent; color vision: not available ; optical coherence tomography: not available ; nystagmus, past: yes, at present: yes; photophobia: yes	1	1	LOVD
00416133	4	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.1 both eyes; electroretinogram signals, scotopic: not available, photopic: not available; color vision: impaired; optical coherence tomography: not available ; nystagmus, past: yes, at present: yes; photophobia: yes	2	1	LOVD
00416134	5	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.01/0.04; electroretinogram signals, scotopic: not available, photopic: not available; color vision: not available; optical coherence tomography: not available ; nystagmus, past: yes, at present: yes; photophobia: yes	1	1	LOVD
00416135	6	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: finger counting both eyes; electroretinogram signals, scotopic: reduced, photopic: absent; color vision: not available ; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: not available , at present: no; photophobia: yes	1	1	LOVD
00416136	7	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.16 both eyes; electroretinogram signals, scotopic: normal, photopic: severely reduced; color vision: impaired; optical coherence tomography: not available ; nystagmus, past: yes, at present: yes; photophobia: yes	1	1	LOVD
00416137	8	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.1 both eyes; electroretinogram signals, scotopic: normal, photopic: absent; color vision: impaired; optical coherence tomography: not available ; nystagmus, past: not available, at present: not available; photophobia: yes	2	1	LOVD
00416138	9	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: not available; electroretinogram signals, scotopic: normal, photopic: absent; color vision: impaired; optical coherence tomography: not available ; nystagmus, past: yes, at present: yes; photophobia: yes	1	1	LOVD
00416139	10	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.1/0.16; electroretinogram signals, scotopic: borderline normal, photopic: severely reduced; color vision: impaired; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: yes, at present: yes; photophobia: yes	2	1	LOVD
00416140	11	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.1/0.1; electroretinogram signals, scotopic: normal, photopic: severely reduced; color vision: not available; optical coherence tomography: not available; nystagmus, past: yes, at present: yes; photophobia: yes	2	1	LOVD
00416141	12	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity right/left eye: 0.05 both eyes; electroretinogram signals, scotopic: borderline normal, photopic: absent; color vision: absent; optical coherence tomography: retinal pigment epithelium, outer segments of the photoreceptors absent, outer limiting membrane present, , inner limiting membrane present, ; nystagmus, past: yes, at present: yes; photophobia: yes	1	1	LOVD
00416142	13	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00416143	14	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00416144	15	PubMed: Weisschuh 2018	-	-	-	-	-	-	-	-	-	retinal disease	-	2	1	LOVD
00416192	?	PubMed: Domingo-Prim 2019	establishing a pluripotent cell line from patient's cells	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00416194	P1	PubMed: Georgiou 2019	pedigree GC23489, individual P1	F	-	-	Nepali	-	-	-	-	retinal disease	phenotyping data, right/left eye: axial length (mm): not available/not available ; visual acuity (LogMAR): 1; refraction (spherical equivalent):-3.75/-3.75; optical coherence tomography, baseline age: 26y, follow-up time: not available, ellipsoid zone grade (described in Sundaram et al.., 2014): 3/not available, ellipsoid zone width, baseline (um): 1058/not available, rate of EZ loss (um/year): not available/not available; fundus autofluorescence: not available; evidence of progression: not available	2	1	LOVD

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Global Variome shared LOVD

PDE6C (phosphodiesterase 6C, cGMP-specific, cone, a...)