Disease #01339 (fundus albipunctatus (retinitis punctata albescens (RPA)), OMIM:136880)

Official abbreviation	-
Name	fundus albipunctatus (retinitis punctata albescens (RPA))
OMIM ID	136880
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant, Autosomal recessive
Individuals reported having this disease	110
Phenotype entries for this disease	110
Associated with 4 genes	PRPH2, RDH5, RHO, RLBP1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2019-12-17 16:27:42 +01:00 (CET)

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.

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combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
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\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
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<=	Date	<=2020-06	all entries in or before June, 2020
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>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
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Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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110 entries on 2 pages. Showing entries 1 - 100.

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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
00087953	-	PubMed: Sergouniotis 2011	?	F	?	-	Europe-C	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Deep white dots	RDH5	RDH5	1	1	Raheel Qamar
00087954	-	PubMed: Schatz 2010	?	M	no	Germany	German	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, macular atrophy	RDH5	RDH5	2	1	Raheel Qamar
00087955	-	PubMed: Ruther 2004	3 generation family, 1 affected	F	no	Germany	German	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00087956	-	PubMed: Sergouniotis 2011	?	M	?	-	Europe-C	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Deep white dots, rpe degeneration	RDH5	RDH5	2	1	Raheel Qamar
00087957	-	PubMed: Nakamura 2000, PubMed: Nakamura 2003	Case 12 and Case 13 are brothers	M	?	Japan	Unknown	-	-	-	-	COD, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; cone dystrophy; white dots	RDH5	RDH5	1	1	Raheel Qamar
00087958	-	PubMed: Nakamura 2000, PubMed: Nakamura 2003	Case 12 and Case 13 are brothers	M	?	Japan	Unknown	-	-	-	-	COD, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; cone dystrophy; white dots	RDH5	RDH5	1	1	Raheel Qamar
00087959	-	PubMed: Wada 2001	3 generation family, 1 affected, 3 carriers	M	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Scattered white dots, macular degeneration	RDH5	RDH5	1	1	Raheel Qamar
00087960	-	PubMed: Querques 2009	?	F	?	Italy	Unknown	-	-	-	-	COD, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; cone dystrophy; numerous yellow-white flecks, bull's eye	RDH5	RDH5	1	1	Raheel Qamar
00087961	-	PubMed: Nakamura 2000, PubMed: Nakamura 2003	?	F	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00087962	-	PubMed: Niwa 2005	?	F	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00087963	-	PubMed: Niwa 2005	?	M	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00087964	-	PubMed: Niwa 2005	?	F	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00087965	-	PubMed: Driessen 2001	2 generation family, 1 affected	F	?	Netherlands	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00087966	-	PubMed: Driessen 2001	2 generation family, 1 affected	F	?	Netherlands	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00087967	-	PubMed: Yamamoto 1999	2 generation family, 1 affected	M	?	United States	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00087968	-	PubMed: Sergouniotis 2011	Asia; South	M	?	-	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Deep white dots	RDH5	RDH5	2	1	Raheel Qamar
00087969	-	PubMed: Hotta 2003	2 affected	M	yes	Japan	Unknown	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; white dots	RDH5	RDH5	1	1	Raheel Qamar
00087970	-	PubMed: Hotta 2003	2 affected	F	yes	Japan	Unknown	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; white dots	RDH5	RDH5	1	1	Raheel Qamar
00087972	-	PubMed: Nakamura 2000	?	M	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, bull's eye	RDH5	RDH5	2	1	Raheel Qamar
00087973	-	PubMed: Sergouniotis 2011	Asia; South	F	?	-	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Deep white dots, rpe degeneration	RDH5	RDH5	1	1	Raheel Qamar
00087974	-	PubMed: Sergouniotis 2011	?	M	?	-	Europe-C	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	No white dots	RDH5	RDH5	2	1	Raheel Qamar
00087975	-	PubMed: Schatz 2010	Middle Eastern	F	?	-	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00087976	-	PubMed: Iannaccone 2007	(Hispanic-American)	F	yes	-	(Arabic Muslim)	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00087977	-	PubMed: Nakamura 2000, PubMed: Nakamura 2003	?	F	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	4	Raheel Qamar
00087978	-	PubMed: Nakamura 2004, PubMed: Niwa 2005	4 generation family, 2 affected	F	yes	Japan	Unknown	-	-	-	-	COD, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; cone dystrophy; white dots	RDH5	RDH5	2	4	Raheel Qamar
00087979	-	PubMed: Nakamura 2004, PubMed: Niwa 2005	4 generation family, 2 affected	F	yes	Japan	Unknown	-	-	-	-	COD, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; cone dystrophy; white dots	RDH5	RDH5	2	4	Raheel Qamar
00087980	-	PubMed: Sergouniotis 2011	Middle Eastern	M	?	-	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Deep white dots, rpe degeneration	RDH5	RDH5	2	1	Raheel Qamar
00087981	-	PubMed: Sergouniotis 2011	Asia; South	M	?	-	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Deep white dots, rpe degeneration	RDH5	RDH5	1	1	Raheel Qamar
00087982	-	PubMed: Hajali 2009	?	F	?	-	white	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00087983	-	PubMed: Yamamoto 2003	?	M	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Fading white dots, macular atrophy	RDH5	RDH5	1	1	Raheel Qamar
00087984	-	PubMed: Kuroiwa 2000	6 generation family, 1 affected , 2 affected with RP	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00087985	-	PubMed: Hayashi 2006	3 generation family, 1 affected, 3 carriers	M	no	Japan	Unknown	-	-	-	-	FRFB, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; fleck retina; various yellow white flecks on retina	RDH5	RDH5	2	1	Raheel Qamar
00087986	-	PubMed: Schatz 2010	Scandinavia	F	yes	-	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00087987	-	PubMed: Wang 2008	3 generation family, 1 affected with FA, 3 affected with RP	F	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Numerous yellow-white punctate deposits	RDH5	RDH5	2	1	Raheel Qamar
00087988	-	PubMed: Yamamoto 1999	2 generation family, 2 affected, 3 carrier	F	no	Canada	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Numerous pale-yellow spots	RDH5	RDH5	1	1	Raheel Qamar
00087989	-	PubMed: Yamamoto 1999	2 generation family, 2 affected, 3 carrier	M	no	Canada	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Numerous pale-yellow spots	RDH5	RDH5	1	1	Raheel Qamar
00087990	-	PubMed: Gonzalez-Fernandez 1999	2 generation family, 2 affected	F	yes	Greece	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Typical yellow-white dots	RDH5	RDH5	1	1	Raheel Qamar
00087991	-	PubMed: Gonzalez-Fernandez 1999	2 generation family, 2 affected	F	yes	Greece	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Typical yellow-white dots	RDH5	RDH5	1	1	Raheel Qamar
00087992	-	PubMed: Sergouniotis 2011	Asia; South	F	?	-	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Multiple deep whitish flecks	RDH5	RDH5	1	1	Raheel Qamar
00087993	-	PubMed: Nakamura 2000	?	M	?	Japan	Unknown	-	-	-	-	COD, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; cone dystrophy; white dots, bull's eye	RDH5	RDH5	2	1	Raheel Qamar
00087994	-	PubMed: Niwa 2005	?	M	?	Japan	Unknown	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; white dots	RDH5	RDH5	2	1	Raheel Qamar
00087995	-	PubMed: Ajmal 2012	7 generation family, 5 affecteds, 4 unaffected carriers	F	yes	Pakistan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, macular degeneration	RDH5	RDH5	1	1	Raheel Qamar
00087996	-	PubMed: Ajmal 2012	7 generation family, 5 affecteds, 4 unaffected carriers	F	yes	Pakistan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, macular degeneration	RDH5	RDH5	1	1	Raheel Qamar
00087997	-	PubMed: Ajmal 2012	7 generation family, 5 affecteds, 4 unaffected carriers	M	yes	Pakistan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, macular degeneration	RDH5	RDH5	1	1	Raheel Qamar
00087998	-	PubMed: Ajmal 2012	7 generation family, 5 affecteds, 4 unaffected carriers	F	yes	Pakistan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, macular degeneration	RDH5	RDH5	1	1	Raheel Qamar
00087999	-	PubMed: Ajmal 2012	7 generation family, 5 affecteds, 4 unaffected carriers	F	yes	Pakistan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, macular degeneration	RDH5	RDH5	1	1	Raheel Qamar
00088000	-	PubMed: Hirose 2000	3 generation family, 3 affected, 1 unaffected carrier	F	yes	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Light yellow spots	RDH5	RDH5	1	1	Raheel Qamar
00088001	-	PubMed: Hirose 2000	3 generation family, 3 affected, 1 unaffected carrier	F	yes	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Light yellow spots	RDH5	RDH5	1	1	Raheel Qamar
00088002	-	PubMed: Hirose 2000	3 generation family, 3 affected, 1 unaffected carrier	F	yes	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Light yellow spots	RDH5	RDH5	1	1	Raheel Qamar
00088003	-	PubMed: Sergouniotis 2011	Middle Eastern	F	?	-	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Deep white dots and flecks, rpe degeneration	RDH5	RDH5	1	1	Raheel Qamar
00088004	-	PubMed: Gonzalez-Fernandez 1999	2 affected	M	no	United States	German	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; light yellow discrete lesions	RDH5	RDH5	2	1	Raheel Qamar
00088005	-	PubMed: Gonzalez-Fernandez 1999	2 affected	F	no	United States	German	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; light yellow discrete lesions	RDH5	RDH5	2	1	Raheel Qamar
00088006	-	PubMed: Nakamura 2000, PubMed: Nakamura 2003	?	F	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00088007	-	PubMed: Sato 2004	?	?	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00088008	-	PubMed: Niwa 2005	?	M	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00088009	-	PubMed: Niwa 2005	?	F	?	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00088010	-	PubMed: Nakamura 2002	No Family Member had Eye Disease	M	?	Japan	Unknown	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; yellow white dots, foveal atrophy	RDH5	RDH5	2	1	Raheel Qamar
00088011	-	PubMed: Niwa 2005	?	M	?	Japan	Unknown	-	-	-	-	macular dystrophy, fundus albipunctatus (retinitis punctata albescens (RPA))	Fundus albipunctatus; macular dystrophy; white dots	RDH5	RDH5	2	1	Raheel Qamar
00088012	-	PubMed: Schatz 2010	Middle Eastern	M	no	-	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088013	-	PubMed: Ajmal 2012	4 generation family, 2 affecteds, 3 unaffected carriers	M	yes	Pakistan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, macular degeneration	RDH5	RDH5	1	1	Raheel Qamar
00088014	-	PubMed: Ajmal 2012	4 generation family, 2 affecteds, 3 unaffected carriers	M	yes	Pakistan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, macular degeneration	RDH5	RDH5	1	1	Raheel Qamar
00088015	-	PubMed: Hirose 2000	2 generation family, 1 affected.	F	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Light yellow spots	RDH5	RDH5	1	1	Raheel Qamar
00088016	-	PubMed: Nakamura 2000, PubMed: Nakamura 2003	?	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White punctation and bull's eye	RDH5	RDH5	1	1	Raheel Qamar
00088017	-	PubMed: Nakamura 2000, PubMed: Nakamura 2003	?	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Distinct macular dystrophy and inconspicuous white dots	RDH5	RDH5	1	1	Raheel Qamar
00088018	-	PubMed: Nakamura 2000, PubMed: Nakamura 2003	?	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White punctation and bull's eye	RDH5	RDH5	1	1	Raheel Qamar
00088019	-	PubMed: Nakamura 2000, PubMed: Nakamura 2003	?	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	Macular dystrophy and white dots	RDH5	RDH5	1	1	Raheel Qamar
00088020	-	PubMed: Wada 2000	2 generation family, 1 affected	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, night blindness, photophobia	RDH5	RDH5	1	1	Raheel Qamar
00088021	-	PubMed: Wada 2000	3 generation family, 2 affected	F	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, night blindness	RDH5	RDH5	1	1	Raheel Qamar
00088022	-	PubMed: Wada 2000	3 generation family, 2 affected	F	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, night blindness	RDH5	RDH5	1	1	Raheel Qamar
00088023	-	PubMed: Wada 2000	3 generation family, 2 affected	F	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, night blindness	RDH5	RDH5	1	1	Raheel Qamar
00088024	-	PubMed: Wada 2000	3 generation family, 2 affected	F	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, night blindness	RDH5	RDH5	1	1	Raheel Qamar
00088025	-	PubMed: Wada 2000	3 generation family, 1 affected	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots, night blindness	RDH5	RDH5	1	1	Raheel Qamar
00088026	-	PubMed: Nakamura 2000	Case 8 and Case 9 are sister and brother	F	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088027	-	PubMed: Nakamura 2000	Case 8 and Case 9 are sister and brother	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088028	-	PubMed: Nakamura 2003	?	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088029	-	PubMed: Nakamura 2003	Case#77 and Case#78 are sister and brother	F	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088030	-	PubMed: Nakamura 2003	Case#77 and Case#78 are sister and brother	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088031	-	PubMed: Nakamura 2003	?	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088032	-	PubMed: Nakamura 2003	?	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088033	-	PubMed: Nakamura 2003	?	M	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088034	-	PubMed: Niwa 2005	?	F	no	Japan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088035	-	PubMed: Wang 2012	3 generation family, 1 affected, 4 unaffected	F	yes	Taiwan	Unknown	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	2	1	Raheel Qamar
00088036	-	PubMed: Pras 2012	2 affected (Bukhara)	?	?	Uzbekistan	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088037	-	PubMed: Pras 2012	2 affected (Bukhara)	?	?	Uzbekistan	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088038	-	PubMed: Pras 2012	?	?	-	Iraq;Morocco	Iraqi/Morrocan	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088039	-	PubMed: Pras 2012	?	?	-	Iran	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088040	-	PubMed: Pras 2012	3 affected	?	-	Iraq	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088041	-	PubMed: Pras 2012	3 affected	?	-	Iraq	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088042	-	PubMed: Pras 2012	3 affected	?	-	Iraq	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088043	-	PubMed: Pras 2012	?	?	-	Iraq	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088044	-	PubMed: Pras 2012	?	?	-	Iran	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088045	-	PubMed: Pras 2012	?	?	-	Iraq	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088046	-	PubMed: Pras 2012	?	?	-	-	Jewish-Ashkenazi	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088047	-	PubMed: Pras 2012	?	?	-	Iraq	Jewish-Ashkenazi	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088048	-	PubMed: Pras 2012	?	?	-	-	Jewish-Ashkenazi	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088049	-	PubMed: Pras 2012	?	?	-	-	Arab-Muslim	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088050	-	PubMed: Pras 2012	?	?	-	-	Arab-Muslim	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088051	-	PubMed: Pras 2012	?	?	-	-	Arab-Muslim	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088052	-	PubMed: Pras 2012	?	-	-	Turkey;Iraq	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar
00088053	-	PubMed: Pras 2012	?	-	-	Morocco;India	-	-	-	-	-	fundus albipunctatus (retinitis punctata albescens (RPA))	White dots	RDH5	RDH5	1	1	Raheel Qamar

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Global Variome shared LOVD

RBM28 (RNA binding motif protein 28)