All individuals with variants in gene PRCD

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.

46 entries on 1 page. Showing entries 1 - 46.

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
00001810	-	-	-	-	-	(United States)	-	-	-	-	-	RP	-	1	1	Feng Wang
00100121	61376	PubMed: Li 2017	-	F	yes	Pakistan	Pakistani	-	-	-	-	retinal disease	-	1	1	James Hejtmancik
00233472	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233473	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	3	Yoshito Koyanagi
00233474	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	2	Yoshito Koyanagi
00233475	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233476	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	1	Yoshito Koyanagi
00233797	-	PubMed: Koyanagi 2019, Journal: Koyanagi 2019	analysis 1204 retinitis pigmentosa cases	-	-	Japan	-	-	-	-	-	retinal disease	-	1	3	Yoshito Koyanagi
00309302	-	PubMed: Sharon 2019	15 IRD families	-	-	Israel	-	-	-	-	-	retinal disease	-	1	15	Global Variome, with Curator vacancy
00331283	Pat37	PubMed: Maeda 2018	family	M	-	Japan	-	-	-	-	-	retinal disease	-	1	1	LOVD
00335141	164	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	15y-diagnosis visual impairment	2	1	LOVD
00335221	Fi15/24	PubMed: Riera 2017	family, several affected	-	-	Spain	-	-	-	-	-	retinal disease	-	1	2	LOVD
00362189	RP-0040	PubMed: Perez-Carro 2016	-	-	-	Spain	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00363520	9200034/I-39360	PubMed: Beheshtian 2015	4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives	M	yes	Iran	-	-	-	-	-	retinal disease	see paper; ...	1	2	LOVD
00373375	-	PubMed: Van Huet 2015	-	-	-	Netherlands	-	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00375280	K6167	PubMed: Oishi 2014	family	-	-	Japan	-	-	-	-	-	retinal disease	see paper; ...	1	1	LOVD
00381069	-	PubMed: Fu-2013	-	M	-	China	Chinese	-	-	-	-	retinal disease	Epiretinal membrane	1	2	LOVD
00381717	-	PubMed: Wang-2014	-	-	no	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00385399	F9-II-1	PubMed: Chen 2020	-	F	-	Taiwan	-	-	-	-	-	retinal disease	57	1	1	LOVD
00386239	RPN-451	PubMed: Rodriguez-Munoz 2020	family fRPN-203, proband	M	-	Spain	-	-	-	-	-	retinal disease	-	2	1	LOVD
00388852	136	PubMed: Weisschuh 2020	Filing key number: 59, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	2	1	LOVD
00388942	226	PubMed: Weisschuh 2020	Filing key number: 79, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00388943	227	PubMed: Weisschuh 2020	Filing key number: 79, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00388944	228	PubMed: Weisschuh 2020	Filing key number: 79, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00410240	1	PubMed: Zangerl 2006	-	-	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00410241	3	PubMed: Zangerl 2006	-	F	-	-	Bangladesh	-	-	-	-	retinal disease	best corrected visual acuity right, left eye: 20/70, hand motions; refraction: right, left eye: 3.75+ 1.00x180,-2.00 sphere; slit-lamp examination: clear corneas and deep anterior chambers, clear lens, no vitreous cells; papillary response: a 0.9 log unit relative afferent papillary defect; Goldmann perimetry: a greater loss of sensitivity in the left eye than in the right; fundus: optic discs with fairly normal color, markedly attenuated arterioles, extensive bone spicule-like pigmentation in all four quadrants of both eyes, densest at the equator, this intraretinal pigment was admixed with lighter colored deposits at the level of the retinal pigment epithelium, small patches of geographic atrophy near fixation in both eye,full-field electroretinography: no responses	1	1	LOVD
00410242	307	PubMed: Nevet 2010	single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table	?	yes	Israel	Arab	-	-	-	-	retinal disease	11y: best corrected visual acuity right, left eye: 6/12, 6/12; 6y: full field electroretinogram, light and dark adaptation: non recordable; funduscopy: mild bone spicule pigmentation; additional findings	1	1	LOVD
00410243	308	PubMed: Nevet 2010	single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table	?	yes	Israel	Arab	-	-	-	-	retinal disease	14y: best corrected visual acuity right, left eye: 6/15, 6/15; 8y: full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; additional findings	1	1	LOVD
00410244	511	PubMed: Nevet 2010	single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table	?	yes	Israel	Arab	-	-	-	-	retinal disease	14y: best corrected visual acuity right, left eye: 6/18, 6/18; full field electroretinogram, light and dark adaptation: non recordable; funduscopy: mild bone spicule pigmentation; additional findings	1	1	LOVD
00410245	651	PubMed: Nevet 2010	single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table	?	yes	Israel	Arab	-	-	-	-	retinal disease	19y: best corrected visual acuity right, left eye: 6/90, 6/120; 15y: full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; macular puckering; additional findings	1	1	LOVD
00410246	616	PubMed: Nevet 2010	single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table	?	yes	Israel	Arab	-	-	-	-	retinal disease	19y: best corrected visual acuity right, left eye: 6/9+, 6/30+; full field electroretinogram, light and dark adaptation: not done; funduscopy: bone spicule pigmentation; bull's eye maculopathy; 22y: best corrected visual acuity right, left eye: 6/12, 6/30; full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; bull's eye maculopathy	1	1	LOVD
00410247	485	PubMed: Nevet 2010	single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table	?	yes	Israel	Arab	-	-	-	-	retinal disease	35y: best corrected visual acuity right, left eye: 6/36, 6/36; 18y: full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; macular scars; optic disk pallor; additional findings	1	1	LOVD
00410248	853	PubMed: Nevet 2010	single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table	?	yes	Israel	Arab	-	-	-	-	retinal disease	31y: best corrected visual acuity right, left eye: 6/60, 6/60; 25y: full field electroretinogram, light and dark adaptation: non recordable; funduscopy: bone spicule pigmentation; significant macular oedema and puckering; additional findin	1	1	LOVD
00410249	572	PubMed: Nevet 2010	single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table	?	yes	Israel	Arab	-	-	-	-	retinal disease	45y: best corrected visual acuity right, left eye: hand movement 10 cm, hand movement 10 cm; 30y: full field electroretinogram, light and dark adaptation: not done; funduscopy: severe bone spicule pigmentation; optic disk pallor; additional findings	1	1	LOVD
00410250	656	PubMed: Nevet 2010	single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table	?	yes	Israel	Arab	-	-	-	-	retinal disease	44y: best corrected visual acuity right, left eye: 6/300, 6/300; full field electroretinogram, light and dark adaptation: not done; funduscopy: bone spicule pigmentation; bull's eye maculopathy; 48y: best corrected visual acuity right, left eye: finger counting 10 cm, finger counting 10 cm; full field electroretinogram, light and dark adaptation: not done; funduscopy: severe bone spicule pigmentation; macular degeneration; severe macular scar	1	1	LOVD
00410251	505	PubMed: Nevet 2010	single village with high carrier frequency; family numbers on pedigrees do not have individual numbers that are in the table	?	yes	Israel	Arab	-	-	-	-	retinal disease	68y: best corrected visual acuity right, left eye: no light perception; full field electroretinogram, light and dark adaptation: not done; funduscopy: severe bone spicule pigmentation; optic disk pallor; additional findings	1	1	LOVD
00410253	IV:3	PubMed: Pach 2013	-	F	yes	Turkey	-	-	-	-	-	retinal disease	best corrected visual acuity and refraction right, left eye: 20/50 (-1,75 sph -0,25 cyl 138deg), 20/630 (-2,5 sph -1,0 cyl 22deg); kinetic visual field (target III4e): visual field constriction: III4e: remaining island in the center of 162.0 deg2 (right eye), 165.5 deg2 (left eye), small remaining island in the temporal periphery of 1012.7 deg2 (right eye), 1401.9 deg2 (left eye); electrophysiology (full-field and multifocal electroretinogram): non-detectable; funduscopic findings: bone-spicule-like pigmentation; attenuated arterioles; bull's eye maculopathy; optic disc pallor; additional findings: posterior subcapsular cataract; optical coherence tomography right, left eye: 154 um, 126 um	1	1	LOVD
00410254	IV:4	PubMed: Pach 2013	-	M	yes	Turkey	-	-	-	-	-	retinal disease	best corrected visual acuity and refraction right, left eye: 20/80 (-2,0 sph -0,75 cyl 42deg), 20/250 (-1,75 sph -1,0 cyl 175deg); kinetic visual field (target III4e): visual field constriction: III4e: remaining island in the center of 1203.5 deg2 (right eye), 1528.0 deg2 (left eye); electrophysiology (full-field and multifocal electroretinogram): non-detectable; funduscopic findings: bone-spicule-like pigmentation; attenuated arterioles; patchy RPE-atrophy in the macula; additional findings: posterior subcapsular cataract; optical coherence tomography right, left eye: 104 um, 115 um	1	1	LOVD
00410255	IV:5	PubMed: Pach 2013	-	F	yes	Turkey	-	-	-	-	-	retinal disease	best corrected visual acuity and refraction right, left eye: 20/40 (-3,75 sph -1,0 cyl 179deg), 20/50 (-4,5 sph -1,0 cyl 157deg); kinetic visual field (target III4e): visual field constriction: III4e: remaining island in the center of 269.2 deg2 (right eye), 265.8 deg2 (left eye), small remaining island in the temporal periphery of 392.4 deg2 (right eye), 405.1 deg2 (left eye); electrophysiology (full-field and multifocal electroretinogram): non-detectable; funduscopic findings: bone-spicule-like pigmentation; attenuated arterioles; bull's eye maculopathy; additional findings: posterior subcapsular cataract; optical coherence tomography right, left eye: 189 um, 202 um	1	1	LOVD
00429699	-	PubMed: Panneman 2023	-	F	-	-	-	-	-	-	-	RP	-	1	1	Daan Panneman
00446966	ARRP-195	PubMed: Weisschuh 2024	family, 2 affected	M	-	Germany	-	-	-	-	-	?	-	1	2	Johan den Dunnen
00446988	ARRP-435	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00447001	ARRP-456	PubMed: Weisschuh 2024	family, >3 affected	M	-	Germany	-	-	-	-	-	?	-	1	4	Johan den Dunnen
00447003	ARRP-460	PubMed: Weisschuh 2024	patient, no family history	M	-	Germany	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00461111	Pat46	PubMed: Midgley 2024	-	M	-	South Africa	Africa-indigenous	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen
00461125	Pat60	PubMed: Midgley 2024	-	M	-	South Africa	Africa-indigenous	-	-	-	-	retinal disease	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

PRCD (progressive rod-cone degeneration)