All individuals with variants in gene CABP4

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.

45 entries on 1 page. Showing entries 1 - 45.

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
00155401	-	Sharon, submitted	-	M	yes	Israel	Arab-Muslim	-	-	-	-	LCA	-	1	1	Dror Sharon
00246671	FamA	PubMed: Zeitz 2006	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives	M	-	Switzerland	-	-	-	-	-	CSNB	see paper; ...	1	2	Johan den Dunnen
00246672	FamB	PubMed: Zeitz 2006	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Switzerland	-	-	-	-	-	CSNB	see paper; ...	2	1	Johan den Dunnen
00246673	FamPatII1/1	PubMed: Littink 2009	2-generation family, affected brother/sister, unaffected heterozygous carrier parents	F;M	-	Netherlands	-	-	-	-	-	CSNB	see paper; ...	1	2	Johan den Dunnen
00246674	family	PubMed: Aldahmesh 2010	2-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives	F;M	yes	Saudi Arabia	-	-	-	-	-	LCA	see paper; ...	1	4	Johan den Dunnen
00246676	FamB	PubMed: Khan 2013	generation family, 3 affected, unaffected heterozygous carrier parents/relatives	-	yes	Saudi Arabia	-	-	-	-	-	CSNB	see paper; …	1	3	Johan den Dunnen
00246677	FamC	PubMed: Khan 2013	generation family, 3 affected, unaffected heterozygous carrier parents/relatives	-	yes	Saudi Arabia	-	-	-	-	-	CSNB	see paper; …	1	3	Johan den Dunnen
00246678	FamD	PubMed: Khan 2013	generation family, 1 affected, unaffected heterozygous carrier parents/relatives	M	yes	Saudi Arabia	-	-	-	-	-	CSNB	see paper; …	1	1	Johan den Dunnen
00246679	-	PubMed: Zeitz 2015, Journal: Zeitz 2015	-	-	-	Germany	-	-	-	-	-	CSNB	see paper; ...	1	1	Johan den Dunnen
00290502	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00290503	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00290504	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00309000	-	PubMed: Sharon 2019	1 IRD family	-	-	Israel	-	-	-	-	-	retinal disease	-	1	1	Global Variome, with Curator vacancy
00328067	G004712	PubMed: Carss 2017	-	F	-	United Kingdom (Great Britain)	Asia-South	-	-	-	-	retinal disease	-	1	1	LOVD
00328448	16009408	PubMed: Taylor 2017	no family history retinal disease	M	-	United Kingdom (Great Britain)	-	-	-	-	-	retinal disease	cone dysfunction syndrome (HP:0030637)	1	1	LOVD
00333997	486	PubMed: Stone 2017	1 affected	F	-	(United States)	-	-	-	-	-	retinal disease	clinical category IA2g	2	1	LOVD
00335091	7914	PubMed: Haer-Wigman 2017	patient	-	no	Netherlands	-	-	-	-	-	?	6y-diagnosis visual impairment	2	1	LOVD
00358922	Fam34	PubMed: Wang 2016	-	-	-	China	Han	-	-	-	-	retinal disease	see paper; ...	2	1	LOVD
00376648	-	PubMed: Zeitz-2009	-	-	-	Germany	-	-	-	-	-	retinal disease	-	2	1	LOVD
00377806	-	PubMed: Littink 2010	-	-	no	Netherlands	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380284	-	PubMed: Abu-Safieh-2013	Atypical inheritance and phenotype for PRPH2	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	1	LOVD
00380285	-	PubMed: Abu-Safieh-2013	-	-	-	Saudi Arabia	-	-	-	-	-	retinal disease	-	1	1	LOVD
00381294	-	PubMed: Bijveld-2013	2 female, 1 male	-	-	Netherlands	Dutch	-	-	-	-	retinal disease	-	1	3	Julia Lopez
00382238	67	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	2	1	LOVD
00382239	68	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	1	1	LOVD
00382501	363	PubMed: Jespersgaar 2019	-	?	-	Denmark	-	-	-	-	-	retinal disease	-	2	1	LOVD
00386224	RPN-402	PubMed: Rodriguez-Munoz 2020	family fRPN-183, proband	F	-	Spain	-	-	-	-	-	retinal disease	-	1	1	LOVD
00386907	OGI678_001361	PubMed: Zampaglione 2020	-	?	-	-	-	-	-	-	-	retinal disease	-	1	1	LOVD
00389059	343	PubMed: Weisschuh 2020	Filing key number: 115, congenital stationary night blindness, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389679	963	PubMed: Weisschuh 2020	Filing key number: 431, cone dystrophy, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389680	964	PubMed: Weisschuh 2020	Filing key number: 431, cone dystrophy, no patient Ids, consecutive numbers given	M	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00389757	1041	PubMed: Weisschuh 2020	Filing key number: 610, cone dystrophy, no patient Ids, consecutive numbers given	F	-	Germany	-	-	-	-	-	retinal disease	age at genetic diagnosis mentioned	1	1	LOVD
00390183	G004712	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
00390477	G005184	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
00394365	CSNB	PubMed: Thorsteinsson 2021	-	?	-	Iceland	-	-	-	-	-	retinal disease	Nystagmus, visual impairment, and hyperopia, flat electroretinogram	1	1	LOVD
00413590	Patient 2	PubMed: Khan 2014;PubMed: Schatz 2017	Saudi family proband	M	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity first visit (age), follow up visit: fixates and follows (2), 20/80; refraction at follow-up: -1.50 = 1.50x130, +1 = 1x85212; full-field electroretinography at presentation, at follow-up - right eye; rod amplitude (A): 34, 87rod implicit time (it): 138, 122; rod-cone a wave (A): 135, 238; rod-cone a wave (it): 22, 17; rod-cone b wave (A): 105, 195; rod-cone b wave (it): 62, 31; cone a wave (A): 70, 75; cone a wave (it): 22, 18; cone b wave (A): 70, 81; cone b wave (it): 44, 37; 30 Hz flicker (A): 17, 18; 30 Hz flicker (it): 36, 29; red b1 (A): 27, 36; red b1 (it): 63, 65; normal values (respectively, range) 215-245, 103-380, 69-115, 164-378, 11-17, 284-705, 42-60, 54-117, 11-15, 96-239, 33-37, 96-259, 25-32, 51-197 , 42-53	1	1	LOVD
00413591	Patient 5	PubMed: Khan 2014;PubMed: Schatz 2017	proband	M	-	-	-	-	-	-	-	retinal disease	best corrected visual acuity first visit (age), follow up visit: 20/80 (7), 20/70; refraction at follow-up: both eyes -6 = -2.5x0204; full-field electroretinography at presentation - right eye; rod amplitude (A): 0rod implicit time (it): 0; rod-cone a wave (A): 159; rod-cone a wave (it): 19; rod-cone b wave (A): 72; rod-cone b wave (it): 31; cone a wave (A): 54; cone a wave (it): 19; cone b wave (A): 28; cone b wave (it): 26; 30 Hz flicker (A): 42; 30 Hz flicker (it): 26; red b1 (A): 0; red b1 (it): 0; normal values (respectively, range) 215-245, 103-380, 69-115, 164-378, 11-17, 284-705, 42-60, 54-117, 11-15, 96-239, 33-37, 96-259, 25-32, 51-197 , 42-53	1	1	LOVD
00413592	II:4	PubMed: Smirnov 2018	proband, an isolated case	-	-	-	-	-	-	-	-	retinal disease	not visually responsive until 3m; then visual behaviour mildly improved (fixed and followed a light source), photophobia, horizonto-rotatory nystagmus of low amplitude and high frequency, increasing in lateral and superior gaze, consistent with an infantile nystagmus syndrome; small-angle right esotropia; anterior segment examination: iris transillumination at the iris root without any other anomaly; fundus: normal optic disc, no foveal reflex, a starburst macular aspect with fine radial folds at the vitreomacular interface, dark red dot lesion in both foveae; cull cycloplegic refraction right, left eye: +7.50(-1.0)180deg, +8.0(-2.0)10deg; full-field electroretinogram responses: markedly abnormal (first electroretinogram – 6m): dark-adaptation 0.01: a delayed and severely reduced b-wave, scotopic conditions, the dark-adaptation 0.01 electroretinogram b-wave severely reduced and delayed, dark-adaptation 3.0: simplified appearance with a reduced a-wave and a nearly flat b-wave; light-adaptation 3.0 electroretogram and light-adaptation 30 Hz severely reduced - suggestive of Leber congenital amaurosis; repeat electroretinogram 1y: dark-adaptation 3.0 electroretinogram a-wave reduced and simplified, b-wave delayed and severely reduced (b/a ratio 1.2); photopic adaptation, the cone-specific light-adaptation 3.0 electroretinogram a-wave present and reduced, the b-wave more severely reduced compared to dark-adaptation 3.0 electroretinogram b/a ratio 0.8 (normal 1.4) - electronegative waveform found in response to both dark-adaptation 3.0 and light-adaptation 3.0 stimulations; light-adaptation 30-Hz flicker of markedly reduced amplitude. 7y: attending a specialized school for visually impaired children; behavioural problems (autism-spectrum disorder); complained of photophobia; corrected distance visual acuity right / left eye: 0.008 (decimals, 4/480, logMAR 2.1) / 0.005 (decimals, 4/500, logMAR 2.3) after high hyperopia correction; near visual acuity better; Farnsworth 15-Hue test: multiple ranking errors without any axis. optical coherence tomography: foveal gap in the ellipsoid zone, parafoveal scans a saw-tooth irregularity at the level of inner limiting membrane fundus autofluorescence: normal; infrared reflectance imaging: enhanced an aspect of a dark foveal dot and radial macular folds already seen at colour fundus photographs	2	1	LOVD
00436421	2589235	Villafuerte-de la Cruz RA, et al., 2023. Submitted	-	F	likely	Mexico	Hispanic	-	-	yes	None	RPar	Reduced visual acuity HP:0007663, Nyctalopia HP:0000662, Peripheral visual field loss HP:0007994, Retinitis pigmentosa HP:0000510	1	1	Rocio Villafuerte-de la Cruz
00447005	ARRP-464	PubMed: Weisschuh 2024	patient, no family history	F	-	Germany	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00447546	CSNB-86	PubMed: Weisschuh 2024	patient, no family history	M	-	Germany	-	-	-	-	-	?	-	2	1	Johan den Dunnen
00450722	073385	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00450723	073386	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	F	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Rebekkah Hitti-Malin
00451064	066825	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	-	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Johan den Dunnen
00451270	073347	PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024	-	-	-	-	-	-	-	-	-	macular dystrophy	-	1	1	Johan den Dunnen

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Global Variome shared LOVD

CABP4 (calcium binding protein 4)