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Pigmentary retinal dystrophy

MedGen UID:
86317
Concept ID:
C0311338
Congenital Abnormality
Synonyms: Fundus albipunctatus; PRPH2-Related Fundus Albipunctatus; RDH5-Related Fundus Albipunctatus; RLBP1-Related Fundus Albipunctatus
SNOMED CT: Fundus albipunctatus (764939004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Genes (locations): PRPH2 (6p21.1); RDH5 (12q13.2); RHO (3q22.1); RLBP1 (15q26.1)
 
HPO: HP:0030642
Monarch Initiative: MONDO:0007639
OMIM®: 136880
Orphanet: ORPHA227796

Definition

This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested (Krill and Folk, 1962; Krill, 1977). [from OMIM]

Additional description

From MedlinePlus Genetics
Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination.

Individuals with fundus albipunctatus experience night blindness from an early age. In particular, they have delayed dark adaptation, which means they have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. It often takes hours for adaptation to occur. Their vision in bright light is usually normal.

The flecks are especially abundant near the outer edge (the periphery) of the retina. Their density varies among affected individuals; some people have numerous flecks that overlap, while others have fewer. For unknown reasons, the flecks get smaller or fade with age in some affected individuals, although night vision does not improve.

While fundus albipunctatus typically does not worsen (progress) over time, some individuals with the condition develop other eye conditions, such as breakdown of the central region of the retina known as the macula (macular degeneration) with loss of specialized light receptor cells called cones, which can affect vision in bright light.  https://medlineplus.gov/genetics/condition/fundus-albipunctatus

Clinical features

From HPO
Night blindness
MedGen UID:
10349
Concept ID:
C0028077
Disease or Syndrome
Inability to see well at night or in poor light.
Pigmentary retinal dystrophy
MedGen UID:
86317
Concept ID:
C0311338
Congenital Abnormality
This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested (Krill and Folk, 1962; Krill, 1977).
Retinal flecks
MedGen UID:
602327
Concept ID:
C0423414
Finding
Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPigmentary retinal dystrophy

Conditions with this feature

Pigmentary retinal dystrophy
MedGen UID:
86317
Concept ID:
C0311338
Congenital Abnormality
This form of fleck retina disease (see 228980) is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested (Krill and Folk, 1962; Krill, 1977).

Professional guidelines

PubMed

Bhalla S, Joshi D, Bhullar S, Kasuga D, Park Y, Kay CN
Br J Ophthalmol 2013 Jul;97(7):895-9. Epub 2013 Apr 20 doi: 10.1136/bjophthalmol-2013-303084. PMID: 23603755

Recent clinical studies

Etiology

Barnes AC, Hanif AM, Jain N
Ophthalmol Retina 2020 Dec;4(12):1196-1201. Epub 2020 May 21 doi: 10.1016/j.oret.2020.05.008. PMID: 32446908
Vezinaw CM, Fishman GA, McAnany JJ
Retina 2020 Aug;40(8):1630-1633. doi: 10.1097/IAE.0000000000002649. PMID: 31568063
Meinert M, Englund E, Hedberg-Oldfors C, Oldfors A, Kornhall B, Lundin C, Wittström E
Ophthalmic Genet 2019 Jun;40(3):227-236. Epub 2019 Jul 2 doi: 10.1080/13816810.2019.1627464. PMID: 31264915
Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV
Ophthalmic Genet 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063. PMID: 29676688
Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM
Ophthalmology 1999 Jun;106(6):1101-8. doi: 10.1016/S0161-6420(99)90244-0. PMID: 10366077

Diagnosis

Barnes AC, Hanif AM, Jain N
Ophthalmol Retina 2020 Dec;4(12):1196-1201. Epub 2020 May 21 doi: 10.1016/j.oret.2020.05.008. PMID: 32446908
Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV
Ophthalmic Genet 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063. PMID: 29676688
Bhalla S, Joshi D, Bhullar S, Kasuga D, Park Y, Kay CN
Br J Ophthalmol 2013 Jul;97(7):895-9. Epub 2013 Apr 20 doi: 10.1136/bjophthalmol-2013-303084. PMID: 23603755
Proença H, Castanheira-Dinis A, Monteiro-Grillo M
Graefes Arch Clin Exp Ophthalmol 2006 Sep;244(9):1203-5. Epub 2006 Jan 13 doi: 10.1007/s00417-005-0230-1. PMID: 16411099
Mandal AK, Das T, Gothwal VK
Indian J Ophthalmol 2001 Dec;49(4):271-2. PMID: 12930123

Therapy

Barnes AC, Hanif AM, Jain N
Ophthalmol Retina 2020 Dec;4(12):1196-1201. Epub 2020 May 21 doi: 10.1016/j.oret.2020.05.008. PMID: 32446908
Bhalla S, Joshi D, Bhullar S, Kasuga D, Park Y, Kay CN
Br J Ophthalmol 2013 Jul;97(7):895-9. Epub 2013 Apr 20 doi: 10.1136/bjophthalmol-2013-303084. PMID: 23603755

Prognosis

Meinert M, Englund E, Hedberg-Oldfors C, Oldfors A, Kornhall B, Lundin C, Wittström E
Ophthalmic Genet 2019 Jun;40(3):227-236. Epub 2019 Jul 2 doi: 10.1080/13816810.2019.1627464. PMID: 31264915
Wangtiraumnuay N, Alnabi WA, Tsukikawa M, Thau A, Capasso J, Sharony R, Inglehearn CF, Levin AV
Ophthalmic Genet 2018 Jun;39(3):384-390. doi: 10.1080/13816810.2018.1432063. PMID: 29676688
Bhalla S, Joshi D, Bhullar S, Kasuga D, Park Y, Kay CN
Br J Ophthalmol 2013 Jul;97(7):895-9. Epub 2013 Apr 20 doi: 10.1136/bjophthalmol-2013-303084. PMID: 23603755
Proença H, Castanheira-Dinis A, Monteiro-Grillo M
Graefes Arch Clin Exp Ophthalmol 2006 Sep;244(9):1203-5. Epub 2006 Jan 13 doi: 10.1007/s00417-005-0230-1. PMID: 16411099
Piccolino FC, Calabria G, Polizzi A, Fioretto M
Graefes Arch Clin Exp Ophthalmol 1989;227(4):335-9. doi: 10.1007/BF02169408. PMID: 2476365

Clinical prediction guides

Meinert M, Englund E, Hedberg-Oldfors C, Oldfors A, Kornhall B, Lundin C, Wittström E
Ophthalmic Genet 2019 Jun;40(3):227-236. Epub 2019 Jul 2 doi: 10.1080/13816810.2019.1627464. PMID: 31264915
Bhalla S, Joshi D, Bhullar S, Kasuga D, Park Y, Kay CN
Br J Ophthalmol 2013 Jul;97(7):895-9. Epub 2013 Apr 20 doi: 10.1136/bjophthalmol-2013-303084. PMID: 23603755
Gulkilik G, Erdenoz S, Oba EM
J Pediatr Ophthalmol Strabismus 2010 May 21;47 Online:e1-3. doi: 10.3928/01913913-20100507-04. PMID: 21214151
Smith PR, Bain SC, Good PA, Hattersley AT, Barnett AH, Gibson JM, Dodson PM
Ophthalmology 1999 Jun;106(6):1101-8. doi: 10.1016/S0161-6420(99)90244-0. PMID: 10366077
Piccolino FC, Calabria G, Polizzi A, Fioretto M
Graefes Arch Clin Exp Ophthalmol 1989;227(4):335-9. doi: 10.1007/BF02169408. PMID: 2476365

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