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Fundus atrophy

MedGen UID:
382226
Concept ID:
C2673929
Finding
HPO: HP:0001099

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFundus atrophy

Conditions with this feature

Leber congenital amaurosis 2
MedGen UID:
348473
Concept ID:
C1859844
Disease or Syndrome
RPE65-related Leber congenital amaurosis / early-onset severe retinal dystrophy (RPE65-LCA/EOSRD) is a severe inherited retinal degeneration (IRD) with a typical presentation between birth and age five years. While central vision varies, the hallmark of this disorder is the presence of severe visual impairment with a deceptively preserved retinal structure. Vision is relatively stable in the first decade of life, but begins to decline in adolescence. Most affected individuals are legally blind (visual acuity 20/200 and/or visual fields extending <20 degrees from fixation) by age 20 years. After age 20 years, visual acuity declines further and by the fourth decade all affected individuals are legally blind and many have complete loss of vision (i.e., no light perception). Milder disease phenotypes have been described in individuals with hypomorphic alleles.
Retinitis pigmentosa 2
MedGen UID:
394544
Concept ID:
C2681923
Disease or Syndrome
Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.
Leber congenital amaurosis 1
MedGen UID:
419026
Concept ID:
C2931258
Disease or Syndrome
Leber congenital amaurosis, also known as LCA, is an eye disorder that is present from birth (congenital). This condition primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. The visual impairment tends to be severe and may worsen over time.\n\nLeber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all.\n\nA specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of affected individuals poking, pressing, and rubbing their eyes with a knuckle or finger. Poking their eyes often results in the sensation of flashes of light called phosphenes. Researchers suspect that this behavior may contribute to deep-set eyes in affected children.\n\nIn very rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. Because of the visual loss, affected children may become isolated. Providing children with opportunities to play, hear, touch, understand and other early educational interventions may prevent developmental delays in children with Leber congenital amaurosis.\n\nAt least 20 genetic types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities.
Retinitis pigmentosa 54
MedGen UID:
462041
Concept ID:
C3150691
Disease or Syndrome
Retinitis pigmentosa-54 (RP54) is characterized by typical signs of RP, including poor night vision and peripheral field loss, retinal bone spicule-type pigment deposits, pale optic discs, and markedly reduced or extinguished responses on electroretinography. Atypical features that have been observed include early degeneration of the cone photoreceptor system with macular abnormalities, and ring scotoma on the visual field (Collin et al., 2010). Patients may exhibit an early-onset form of cone-rod dystrophy (CORD23), with central vision loss and ring scotoma around the fovea that progresses to marked chorioretinal atrophy in the macular area (Serra et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. For a general phenotypic description and discussion of genetic heterogeneity of cone-rod dystrophy, see CORD2 (120970).

Professional guidelines

PubMed

Ludwig CA, Greven MA, Moshfeghi DM
Graefes Arch Clin Exp Ophthalmol 2017 Oct;255(10):1935-1946. Epub 2017 Aug 7 doi: 10.1007/s00417-017-3745-3. PMID: 28782073

Recent clinical studies

Etiology

Corleto VD, Minisola S, Moretti A, Damiani C, Grossi C, Ciardi S, D'Ambra G, Bordi C, Strom R, Spagna G, Delle Fave G, Annibale B
J Clin Endocrinol Metab 1999 Dec;84(12):4554-8. doi: 10.1210/jcem.84.12.6193. PMID: 10599718
DeLuca VA Jr, West AB, Haque S, Katz DL, Ciarolla D, Goldenberg S, Fette G
J Clin Gastroenterol 1998 Mar;26(2):106-12. doi: 10.1097/00004836-199803000-00004. PMID: 9563920

Diagnosis

Corleto VD, Minisola S, Moretti A, Damiani C, Grossi C, Ciardi S, D'Ambra G, Bordi C, Strom R, Spagna G, Delle Fave G, Annibale B
J Clin Endocrinol Metab 1999 Dec;84(12):4554-8. doi: 10.1210/jcem.84.12.6193. PMID: 10599718
DeLuca VA Jr, West AB, Haque S, Katz DL, Ciarolla D, Goldenberg S, Fette G
J Clin Gastroenterol 1998 Mar;26(2):106-12. doi: 10.1097/00004836-199803000-00004. PMID: 9563920

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