U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 12

1.

Sjögren-Larsson syndrome

Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006). [from OMIM]

MedGen UID:
11443
Concept ID:
C0037231
Disease or Syndrome
2.

Achromatopsia 2

Achromatopsia is characterized by reduced visual acuity, pendular nystagmus, increased sensitivity to light (photophobia), a small central scotoma, eccentric fixation, and reduced or complete loss of color discrimination. All individuals with achromatopsia (achromats) have impaired color discrimination along all three axes of color vision corresponding to the three cone classes: the protan or long-wavelength-sensitive cone axis (red), the deutan or middle-wavelength-sensitive cone axis (green), and the tritan or short-wavelength-sensitive cone axis (blue). Most individuals have complete achromatopsia, with total lack of function of all three types of cones. Rarely, individuals have incomplete achromatopsia, in which one or more cone types may be partially functioning. The manifestations are similar to those of individuals with complete achromatopsia, but generally less severe. Hyperopia is common in achromatopsia. Nystagmus develops during the first few weeks after birth followed by increased sensitivity to bright light. Best visual acuity varies with severity of the disease; it is 20/200 or less in complete achromatopsia and may be as high as 20/80 in incomplete achromatopsia. Visual acuity is usually stable over time; both nystagmus and sensitivity to bright light may improve slightly. Although the fundus is usually normal, macular changes (which may show early signs of progression) and vessel narrowing may be present in some affected individuals. Defects in the macula are visible on optical coherence tomography. [from GeneReviews]

MedGen UID:
387867
Concept ID:
C1857618
Disease or Syndrome
3.

Multiple epiphyseal dysplasia, Beighton type

A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain. [from ORDO]

MedGen UID:
377049
Concept ID:
C1851536
Disease or Syndrome
4.

Retinitis pigmentosa 76

Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene. [from MONDO]

MedGen UID:
934671
Concept ID:
C4310704
Disease or Syndrome
5.

Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome

Poretti-Boltshauser syndrome is an autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. Affected individuals have delayed motor development and often have speech delay. Cognitive function can range from normal to intellectually disabled (summary by Aldinger et al., 2014). [from OMIM]

MedGen UID:
863258
Concept ID:
C4014821
Disease or Syndrome
6.

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) is characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction (summary by Hoover-Fong et al., 2014). Yamamoto et al. (2014) reviewed 16 reported cases of SMDCRD, noting that all affected individuals presented uniform skeletal findings, with rhizomelia and bowed lower limbs observed in the first year of life, whereas retinal dystrophy had a more variable age of onset. There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. Visual loss was progressive, with stabilization in adolescence. [from OMIM]

MedGen UID:
324684
Concept ID:
C1837073
Disease or Syndrome
7.

Bardet-biedl syndrome 21

BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

MedGen UID:
1374358
Concept ID:
C4319932
Disease or Syndrome
8.

Hypotaurinemic retinal degeneration and cardiomyopathy

Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) is an autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy (Ansar et al., 2020). [from OMIM]

MedGen UID:
1779589
Concept ID:
C5542181
Disease or Syndrome
9.

Retinitis pigmentosa 89

Retinitis pigmentosa-89 (RP89) is characterized by classic features of RP as well as features of ciliopathy, including postaxial polydactyly and renal and hepatic disease. Onset of symptoms is within the first decade of life (Cogne et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of RP, see 268000. [from OMIM]

MedGen UID:
1710499
Concept ID:
C5394552
Disease or Syndrome
10.

Cone-rod synaptic disorder syndrome, congenital nonprogressive

Congenital nonprogressive cone-rod synaptic disorder syndrome (CRSDS) is characterized by retinal and neurodevelopmental disease as well as occasional anomalies of glucose homeostasis. Patients exhibit low vision, photophobia, and nystagmus, and show an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses. Neurodevelopmental features include poor to no language and autistic behaviors (Mechaussier et al., 2020). [from OMIM]

MedGen UID:
1773574
Concept ID:
C5436505
Disease or Syndrome
11.

Retinitis pigmentosa 96

Retinitis pigmentosa-96 (RP96) is characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade. Funduscopy shows the typical features of RP, including bone-spicule pigmentation, attenuation of retinal vasculature, optic disc pallor, and cystic macular edema. Unlike patients with biallelic mutations in the SAG gene, they do not show the golden sheen of the fundus that is typical of Oguchi disease (Sullivan et al., 2017). For a general phenotypic description and discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from OMIM]

MedGen UID:
1824076
Concept ID:
C5774303
Disease or Syndrome
12.

Retinal thinning

Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). [from HPO]

MedGen UID:
762617
Concept ID:
C3549703
Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity