Disease #05412 (maculopathy (maculopathy))

Official abbreviation	maculopathy
Name	maculopathy
OMIM ID	-
Inheritance	-
Individuals reported having this disease	39
Phenotype entries for this disease	16
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-03-23 12:21:26 +01:00 (CET)
Date last edited	N/A

Individuals

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

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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'

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39 entries on 1 page. Showing entries 1 - 39.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00155318	-	Sharon, submitted	-	F	no	Israel	Arab-Muslim	-	-	-	-	maculopathy	-	ABCA4	ABCA4	2	1	Dror Sharon
00155331	-	Sharon, submitted	-	F	no	Israel	Yemenite;Jewish	-	-	-	-	maculopathy	-	ABCA4	ABCA4	1	1	Dror Sharon
00155333	-	Sharon, submitted	-	M	no	Israel	Jewish	-	-	-	-	maculopathy	-	ABCA4	ABCA4	2	2	Dror Sharon
00155337	-	Sharon, submitted	-	F	no	Israel	Druze	-	-	-	-	maculopathy	-	ABCA4	ABCA4	2	1	Dror Sharon
00155339	-	Sharon, submitted	-	F	no	Israel	Jewish-Ashkenazi	-	-	-	-	maculopathy	-	ABCA4	ABCA4	2	1	Dror Sharon
00155345	-	Sharon, submitted	-	M	no	Israel	Turkey;Jewish	-	-	-	-	maculopathy	-	ABCA4	ABCA4	2	3	Dror Sharon
00155356	-	Sharon, submitted	-	M	yes	Israel	Turkey;Jewish	-	-	-	-	maculopathy	-	ABCA4	ABCA4	1	1	Dror Sharon
00155364	-	Sharon, submitted	-	M	no	Israel	Arab-Muslim	-	-	-	-	maculopathy	-	ABCA4	ABCA4	1	2	Dror Sharon
00204287	-	-	-	-	-	-	-	-	-	-	-	maculopathy	-	-	ROM1	1	1	Jana Zernant
00264064	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	maculopathy	Large population study of Age-related Macular Degeneration (AMD) in UK.	SERPING1	SERPING1	1	1	Christian Drouet
00265753	-	-	-	-	-	United Kingdom (Great Britain)	China	-	-	-	-	maculopathy	Patients presenting with age-related macular degeneration	SERPING1	SERPING1	1	1	Christian Drouet
00327053	M54 II-1	Doucette 2021, submitted	single affected female of a 4 person family. 2 unaffected parents, and 1 unaffected sister, presumed autosomal recessive.	F	no	Canada	-	-	-	Yes	-	maculopathy	Fundus: Multiple large, confluent drusen in the central macula and nasal retina Ocular Coherence Tomography (OCT): Numerous confluent drusen in the macula Vision at time of examination was unaffected.	-	LRP1	2	1	Lance P Doucette
00327400	M73 II-1	Doucette 2021, submitted	single child to unaffected parents (father was unavailable for examination)	M	yes	Canada	Middle Eastern	-	-	Yes	-	DFNB, maculopathy	Fundus/History: Bilateral macular schisis, vitreous veils, mild pigmentary retinopathy. Right eye developed shallow rhegmatogenous inferior retinal detachment, and was treated by scleral buckle procedure, cryotherapy with gas injection. Ocular Coherence Tomography: Bilateral parafoveal thinning of the outer retina layers. Central splitting between the inner nuclear and the outer plexiform layer. Electroretinogram (ERG): Small residual cone flicker (6.2 microV in OD, and 7.1 microV in OS) with no measurable responses to ISCE standard seriesd ERG in ffERG	-	CDH23, PEX6	4	1	Lance P Doucette
00327401	M70 II-1	Doucette 2021, submitted	-	F	no	Canada	Originally from India	-	-	-	-	maculopathy	-	-	LRP1	2	1	Lance P Doucette
00327461	M68 II-1	Doucette 2021, submitted	Only Affected brother of a 4 member family. 1 unaffected sister and unaffected parents. Patient has an occult macular dystrophy though no RP1L1 variants were noted.	M	-	Canada	-	-	-	Yes	-	maculopathy	Fundus: No specific findings OCT: Normal ERG:Central loss on multi-focal electroretinogram (abnormal ERG HP:0000512) - Reduced Visual Acuity 20/40 OU (HP:0007663)	-	ARAP2, AVPR2, CRIPAK, DNAH7, FAM123B, GRM6, HS6ST2, OTOG, TRPM1	12	1	Lance P Doucette
00408389	-	-	-	-	-	-	-	-	-	-	-	maculopathy	-	UNC119	UNC119	1	1	Oscar F Chacon-Camacho
00408390	-	-	-	-	-	Mexico	m	-	-	-	-	maculopathy	-	CNGA3	CNGA3	1	1	Oscar F Chacon-Camacho
00408391	-	-	-	-	-	Mexico	-	-	-	-	-	maculopathy	-	CNGA3	CNGA3	1	1	Oscar F Chacon-Camacho
00408392	-	-	-	-	-	Mexico	-	-	-	-	-	maculopathy	-	POC1B	POC1B	1	1	Oscar F Chacon-Camacho
00408393	-	-	-	-	-	Mexico	-	-	-	-	-	maculopathy	-	POC1B	POC1B	1	1	Oscar F Chacon-Camacho
00408394	-	-	-	-	-	-	-	-	-	-	-	maculopathy	-	BEST1	BEST1	1	1	Oscar F Chacon-Camacho
00408395	-	-	-	-	-	-	-	-	-	-	-	maculopathy	-	CYP2U1	CYP2U1	1	1	Oscar F Chacon-Camacho
00408396	-	-	-	-	-	Mexico	-	-	-	-	-	maculopathy	-	PRPH2	PRPH2	1	1	Oscar F Chacon-Camacho
00408399	-	-	-	-	-	-	-	-	-	-	-	maculopathy	-	PROM1	PROM1	1	1	Oscar F Chacon-Camacho
00408400	-	-	-	-	-	-	-	-	-	-	-	maculopathy	-	PROM1	PROM1	1	1	Oscar F Chacon-Camacho
00408401	-	-	-	-	-	-	-	-	-	-	-	maculopathy	-	PRPH2	PRPH2	1	1	Oscar F Chacon-Camacho
00417503	FamHPatII1	PubMed: Olivier 2021	2-generation family, 1 affected, unaffected carrier brother	M	-	France	-	-	-	-	-	maculopathy	see paper	IMPG1	IMPG1	1	1	Johan den Dunnen
00435135	VII.1	PubMed: Bianco 2023	-	M	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	ABCA4, PRPH2	2	2	Lorenzo Bianco
00435138	VII.2	PubMed: Bianco 2023	-	M	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	ABCA4, PRPH2	2	1	Lorenzo Bianco
00435139	VIII.1	PubMed: Bianco 2023	-	M	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	ABCA4, PRPH2	2	1	Lorenzo Bianco
00435140	IX.1	PubMed: Bianco 2023	-	M	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	PRPH2	1	1	Lorenzo Bianco
00435141	X.1	PubMed: Bianco 2023	-	F	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	PRPH2	1	1	Lorenzo Bianco
00435142	XI.1	PubMed: Bianco 2023	-	F	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	PRPH2	1	1	Lorenzo Bianco
00435143	XII.1	PubMed: Bianco 2023	-	M	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	PRPH2	1	3	Lorenzo Bianco
00435144	XII.2	PubMed: Bianco 2023	-	F	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	PRPH2	1	1	Lorenzo Bianco
00435145	XII.3	PubMed: Bianco 2023	-	F	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	PRPH2	1	1	Lorenzo Bianco
00435146	XIII.1	PubMed: Bianco 2023	-	M	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	PRPH2	1	1	Lorenzo Bianco
00435147	XIV.1	PubMed: Bianco 2023	-	M	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	PRPH2	1	1	Lorenzo Bianco
00435148	XV.1	PubMed: Bianco 2023	-	F	no	Italy	Italian	-	-	-	-	maculopathy	-	PRPH2	PRPH2	1	1	Lorenzo Bianco

Legend

How to query

Global Variome shared LOVD

CNGA1 (cyclic nucleotide gated channel alpha 1)