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Items: 9

1.

Leber congenital amaurosis 8

Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000. [from OMIM]

MedGen UID:
462552
Concept ID:
C3151202
Disease or Syndrome
2.

Leber congenital amaurosis 9

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). [from OMIM]

MedGen UID:
325277
Concept ID:
C1837873
Disease or Syndrome
3.

Renal hypomagnesemia 5 with ocular involvement

HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, and nephrocalcinosis. Some patients also have severe visual impairment. Amelogenesis imperfecta has been reported in some patients (summary by Konrad et al., 2006 and Yamaguti et al., 2017). For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014. [from OMIM]

MedGen UID:
1648449
Concept ID:
C4721891
Disease or Syndrome
4.

Microphthalmia, isolated, with coloboma 9

MCOPCB9 is characterized by microphthalmia and coloboma (Aldahmesh et al., 2012). MCOPS15 is characterized by microphthalmia and/or coloboma, with developmental delay in which speech appears to be more severely affected than motor abilities. Additional ocular anomalies that have been observed include ptosis, keyhole-shaped pupils, microcornea, sclerocornea, and anterior segment dysgenesis (Chassaing et al., 2016; Stephen et al., 2018; Singh et al., 2019). For a discussion of genetic heterogeneity of colobomatous microphthalmia, see MCOPCB1 (300345). For a discussion of genetic heterogeneity of syndromic microphthalmia, see MCOPS1 (309800). [from OMIM]

MedGen UID:
767506
Concept ID:
C3554592
Disease or Syndrome
5.

Retinitis pigmentosa 84

MedGen UID:
1648352
Concept ID:
C4748725
Disease or Syndrome
6.

Coloboma of macula

A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented. [from HPO]

MedGen UID:
342305
Concept ID:
C1852767
Congenital Abnormality
7.

Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020). [from OMIM]

MedGen UID:
1780157
Concept ID:
C5543257
Disease or Syndrome
8.

Aortic arch interruption, facial palsy, and retinal coloboma

MedGen UID:
350733
Concept ID:
C1862681
Disease or Syndrome
9.

Macular coloboma-cleft palate-hallux valgus syndrome

Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive. [from ORDO]

MedGen UID:
341812
Concept ID:
C1857619
Disease or Syndrome
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