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Macular hypopigmentation

MedGen UID:
870316
Concept ID:
C4024759
Finding
HPO: HP:0007988

Definition

Decreased amount of pigmentation in the macula lutea. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMacular hypopigmentation

Conditions with this feature

Leber congenital amaurosis 9
MedGen UID:
325277
Concept ID:
C1837873
Disease or Syndrome
Early-onset neurodegeneration in the human retina can lead to Leber congenital amaurosis (LCA), the most severe human form of inherited photoreceptor-neuron degeneration resulting in congenital blindness, with an incidence of approximately 1 in 80,000 (summary by Koenekoop et al., 2012). NMNAT1 mutations have been observed to cause severe and rapidly progressive macular degeneration, leading to severe central atrophy with an appearance of congenital macular coloboma in the neonatal period, as well as an unusual early-onset atrophy of the optic nerve (Perrault et al., 2012). Some patients present with later onset and milder phenotype than typical LCA (Kumaran et al., 2021). For a general discussion of the phenotypic and genetic heterogeneity in Leber congenital amaurosis, see LCA1 (204000).
Bardet-Biedl syndrome 22
MedGen UID:
1794146
Concept ID:
C5561936
Disease or Syndrome
Bardet-Biedl syndrome-22 (BBS22) is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900).

Professional guidelines

PubMed

Celik G, Gunay M, Vural A, Kizilay O, Demirkol YK, Erol MK
Eye (Lond) 2022 Aug;36(8):1639-1644. Epub 2021 Jul 29 doi: 10.1038/s41433-021-01714-8. PMID: 34326501Free PMC Article
Xiao X, Sun W, Li S, Jia X, Zhang Q
Mol Vis 2019;25:821-833. Epub 2019 Dec 2 PMID: 31908400Free PMC Article
Saleem MD, Oussedik E, Picardo M, Schoch JJ
J Am Acad Dermatol 2019 May;80(5):1233-1250.e10. Epub 2018 Sep 17 doi: 10.1016/j.jaad.2018.07.070. PMID: 30236514

Recent clinical studies

Etiology

Bhatia R, Gupta V, Arava S, Khandpur S, Ramam M
Indian J Dermatol Venereol Leprol 2020 Jul-Aug;86(4):386-391. doi: 10.4103/ijdvl.IJDVL_679_17. PMID: 30688218
Tsilou ET, Rubin BI, Reed GF, McCain L, Huizing M, White J, Kaiser-Kupfer MI, Gahl W
Ophthalmology 2004 Aug;111(8):1599-603. doi: 10.1016/j.ophtha.2003.12.058. PMID: 15288994
Wong SS, Tan KC, Goh CL
J Am Acad Dermatol 1998 Feb;38(2 Pt 1):179-85. doi: 10.1016/s0190-9622(98)70596-1. PMID: 9486671
Eisner A, Fleming SA, Klein ML, Mauldin WM
Invest Ophthalmol Vis Sci 1987 Nov;28(11):1832-7. PMID: 3667154

Diagnosis

Bhatia R, Gupta V, Arava S, Khandpur S, Ramam M
Indian J Dermatol Venereol Leprol 2020 Jul-Aug;86(4):386-391. doi: 10.4103/ijdvl.IJDVL_679_17. PMID: 30688218
Kubba A, Batrani M, Taneja A, Jain V
Indian J Dermatol Venereol Leprol 2014 Mar-Apr;80(2):141-4. doi: 10.4103/0378-6323.129391. PMID: 24685851
Tsilou ET, Rubin BI, Reed GF, McCain L, Huizing M, White J, Kaiser-Kupfer MI, Gahl W
Ophthalmology 2004 Aug;111(8):1599-603. doi: 10.1016/j.ophtha.2003.12.058. PMID: 15288994
Eisner A, Fleming SA, Klein ML, Mauldin WM
Invest Ophthalmol Vis Sci 1987 Nov;28(11):1832-7. PMID: 3667154
Schwartz MF Jr, Esterly NB, Fretzin DF, Pergament E, Rozenfeld IH
J Pediatr 1977 Feb;90(2):236-40. doi: 10.1016/s0022-3476(77)80636-7. PMID: 830915

Therapy

Bhatia R, Gupta V, Arava S, Khandpur S, Ramam M
Indian J Dermatol Venereol Leprol 2020 Jul-Aug;86(4):386-391. doi: 10.4103/ijdvl.IJDVL_679_17. PMID: 30688218
Yang F, Yang L, Wataya-Kaneda M, Hasegawa J, Yoshimori T, Tanemura A, Tsuruta D, Katayama I
J Dermatol Sci 2018 Feb;89(2):155-164. Epub 2017 Nov 11 doi: 10.1016/j.jdermsci.2017.11.002. PMID: 29146131

Clinical prediction guides

Yang F, Yang L, Wataya-Kaneda M, Hasegawa J, Yoshimori T, Tanemura A, Tsuruta D, Katayama I
J Dermatol Sci 2018 Feb;89(2):155-164. Epub 2017 Nov 11 doi: 10.1016/j.jdermsci.2017.11.002. PMID: 29146131

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