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Retinitis pigmentosa 28(RP28)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: RP 28; RP28
Gene (location): FAM161A (2p15)
Monarch Initiative: MONDO:0011630
OMIM®: 606068


Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene. [from MONDO]

Clinical features

From HPO
MedGen UID:
Concept ID:
Disease or Syndrome
Inability to see well at night or in poor light.
Constriction of peripheral visual field
MedGen UID:
Concept ID:
An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.
Optic disc pallor
MedGen UID:
Concept ID:
A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Bone spicule pigmentation of the retina
MedGen UID:
Concept ID:
Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).
Rod-cone dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines


Sakai D, Hiraoka M, Matsuzaki M, Yokota S, Hirami Y, Onishi A, Nakamura M, Takahashi M, Kurimoto Y, Maeda A
Jpn J Ophthalmol 2023 Mar;67(2):138-148. Epub 2023 Jan 17 doi: 10.1007/s10384-023-00975-y. PMID: 36648560
Takahashi M, Okazaki H, Ohashi K, Ogura M, Ishibashi S, Okazaki S, Hirayama S, Hori M, Matsuki K, Yokoyama S, Harada-Shiba M
J Atheroscler Thromb 2021 Oct 1;28(10):1009-1019. Epub 2021 May 16 doi: 10.5551/jat.RV17056. PMID: 33994405Free PMC Article
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477

Recent clinical studies

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