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1.

Retinitis pigmentosa 2

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. [from OMIM]

MedGen UID:
394544
Concept ID:
C2681923
Disease or Syndrome
2.

Autosomal dominant optic atrophy classic form

Optic atrophy type 1 (OPA1, or Kjer type optic atrophy) is characterized by bilateral and symmetric optic nerve pallor associated with insidious decrease in visual acuity (usually between ages 4 and 6 years), visual field defects, and color vision defects. Visual impairment is usually moderate (6/10 to 2/10), but ranges from mild or even insignificant to severe (legal blindness with acuity <1/20). The visual field defect is typically centrocecal, central, or paracentral; it is often large in those with severe disease. The color vision defect is often described as acquired blue-yellow loss (tritanopia). Other findings can include auditory neuropathy resulting in sensorineural hearing loss that ranges from severe and congenital to subclinical (i.e., identified by specific audiologic testing only). Visual evoked potentials are typically absent or delayed; pattern electroretinogram shows an abnormal N95:P50 ratio. Tritanopia is the classic feature of color vision defect, but more diffuse nonspecific dyschromatopsia is not uncommon. Ophthalmoscopic examination discloses temporal or diffuse pallor of the optic discs, sometimes associated with optic disc excavation. The neuroretinal rim shows some pallor in most cases, sometimes associated with a temporal pigmentary gray crescent. [from GeneReviews]

MedGen UID:
137902
Concept ID:
C0338508
Disease or Syndrome
3.

Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010). [from OMIM]

MedGen UID:
478179
Concept ID:
C3276549
Disease or Syndrome
4.

Hereditary motor and sensory neuropathy with optic atrophy

MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form. [from GeneReviews]

MedGen UID:
140747
Concept ID:
C0393807
Disease or Syndrome
5.

Cone-rod dystrophy 2

Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998). Genetic Heterogeneity of Autosomal Cone-Rod Dystrophy There are several other autosomal forms of CORD for which the molecular basis is known. CORD3 (604116) is caused by mutation in the ABCA4 gene (601691) on chromosome 1p22. CORD5 (600977) is caused by mutation in the PITPNM3 gene (608921) on chromosome 17p13. CORD6 (601777) is caused by mutation in the GUCY2D gene (600179) on chromosome 17p13.1. CORD9 (612775) is caused by mutation in the ADAM9 gene (602713) on chromosome 8p11. CORD10 (610283) is caused by mutation in the SEMA4A gene (607292) on chromosome 1q22. CORD11 (610381) is caused by mutation in the RAXL1 gene (610362) on chromosome 19p13. CORD12 (612657) is caused by mutation in the PROM1 gene (604365) on chromosome 4p15. CORD13 (608194) is caused by mutation in the RPGRIP1 gene (605446) on chromosome 14q11. CORD14 (see 602093) is caused by mutation in the GUCA1A gene (600364) on chromosome 6p21. CORD15 (613660) is caused by mutation in the CDHR1 gene (609502) on chromosome 10q23. CORD16 (614500) is caused by mutation in the C8ORF37 gene (614477) on chromosome 8q22. CORD18 (615374) is caused by mutation in the RAB28 gene (612994) on chromosome 4p15. CORD19 (615860) is caused by mutation in the TTLL5 gene (612268) on chromosome 14q24. CORD20 (615973) is caused by mutation in the POC1B gene (614784) on chromosome 12q21. CORD21 (616502) is caused by mutation in the DRAM2 gene (613360) on chromosome 1p13. CORD22 (619531) is caused by mutation in the TLCD3B gene (615175) on chromosome 16p11. CORD23 (see 613428) is caused by mutation in the C2ORF71 gene (PCARE; 613425) on chromosome 2p23. CORD24 (620342) is caused by mutation in the UNC119 gene (604011) on chromosome 17q11. A diagnosis of CORD was made in an individual with a mutation in the AIPL1 gene (604392.0004) on chromosome 17p13.1, as well as in an individual with a mutation in the UNC119 gene (604011.0001) on chromosome 17q11.2. Other mapped loci for autosomal CORD include CORD1 (600624) on chromosome 18q21.1-q21.3; CORD7 (603649) on chromosome 6q14; CORD8 (605549) on chromosome 1q12-q24; and CORD17 (615163) on chromosome 10q26. For a discussion of X-linked forms of cone-rod dystrophy, see CORDX1 (304020). [from OMIM]

MedGen UID:
483485
Concept ID:
C3489532
Disease or Syndrome
6.

Cone-rod dystrophy 3

Cone-rod dystrophy-3 (CORD3) is an autosomal recessive, clinically heterogeneous retinal disorder with typical findings of reduced visual acuity, impairment of the central visual field, color vision deficits, and fundoscopic evidence of maculopathy, with no or few midperipheral retinal pigment deposits. Cone degeneration appears early in life with a central involvement of the retina, followed by a degeneration of rods several years later (summary by Klevering et al., 2002 and Ducroq et al., 2002). Both cone and rod a- and b-wave electroretinogram (ERG) amplitudes are reduced (Fishman et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. [from OMIM]

MedGen UID:
349030
Concept ID:
C1858806
Disease or Syndrome
7.

Autosomal recessive optic atrophy, OPA7 type

A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy. [from ORDO]

MedGen UID:
414112
Concept ID:
C2751812
Disease or Syndrome
8.

X-linked cone-rod dystrophy 3

Cone-rod dystrophy is a retinal disorder with predominantly cone involvement. Rod impairment may occur at the same time as the cone impairment or appear later. Patients with CORD usually have reduced visual acuity, photophobia, and color vision defects (summary by Huang et al., 2013). For a discussion of genetic heterogeneity of X-linked cone-rod dystrophy, see 304020. [from OMIM]

MedGen UID:
336932
Concept ID:
C1845407
Disease or Syndrome
9.

Cone-rod dystrophy 12

Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.

The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus). [from MedlinePlus Genetics]

MedGen UID:
393334
Concept ID:
C2675210
Disease or Syndrome
10.

Retinitis pigmentosa 66

Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene. [from MONDO]

MedGen UID:
811638
Concept ID:
C3715216
Disease or Syndrome
11.

Hereditary spastic paraplegia 55

A rare complex type of hereditary spastic paraplegia with characteristics of childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities and sensorimotor neuropathy. Caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12ORF65, mitochondrial. [from SNOMEDCT_US]

MedGen UID:
761342
Concept ID:
C3539506
Disease or Syndrome
12.

Retinal macular dystrophy type 2

A rare, genetic macular dystrophy disorder characterised by slowly progressive bull''s eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1). [from SNOMEDCT_US]

MedGen UID:
1666864
Concept ID:
C4749334
Disease or Syndrome
13.

Macular dystrophy with central cone involvement

MedGen UID:
863808
Concept ID:
C4015371
Disease or Syndrome
14.

Newfoundland cone-rod dystrophy

Newfoundland rod-cone dystrophy (NFRCD) is a severe retinal dystrophy in which night blindness is present from infancy. Progressive loss of peripheral, central, and color vision begins in childhood and results in severe visual loss by the second to fourth decade of life (Eichers et al., 2002). [from OMIM]

MedGen UID:
334840
Concept ID:
C1843815
Disease or Syndrome
15.

Achromatopsia 7

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:
904646
Concept ID:
C4225297
Disease or Syndrome
16.

Cone-rod dystrophy 5

Cone-rod dystrophy-5 (CORD5) is characterized by reduced visual acuity, photophobia, and defective color vision. Most patients experience onset of symptoms in early childhood, with progression to legal blindness by early adulthood, although some patients exhibit a milder phenotype, with onset in the fourth or fifth decade of life (Kohn et al., 2007; Reinis et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. [from OMIM]

MedGen UID:
322083
Concept ID:
C1832976
Disease or Syndrome
17.

Retinitis pigmentosa 73

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

MedGen UID:
907690
Concept ID:
C4225287
Disease or Syndrome
18.

North Carolina macular dystrophy

North Carolina macular dystrophy (NCMD, MCDR1) is a congenital autosomal dominant trait that appears to be completely penetrant. It is generally nonprogressive. The ophthalmoscopic findings are highly variable and are always much more dramatic than one would predict from the relatively good visual acuity level, which ranges from 20/20 to 20/400 (median, 20/60). Patients may have only a few drusen in the central macular region (grade I), confluent drusen confined to the central macular region (grade II), or a severe macular coloboma/staphyloma (grade III) involving 3 to 4 disc areas of the central macular region. Choroidal neovascular membranes develop in some patients. Color vision is normal. Electrophysiologic studies are also normal (summary by Small, 1998). Genetic Heterogeneity of Retinal Macular Dystrophy MCDR2 (608051) is caused by mutation in the PROM1 gene (604365) on chromosome 4p15. MCDR3 (608850) is caused by a duplication on chromosome 5p15. MCDR4 (619977) is caused by mutation in the CLEC3B gene (187520) on chromosome 3p21. MCDR5 (see 613660) is caused by mutation in the CDHR1 gene (609502) on chromosome 10q23. See MAPPING for possible additional loci for MCDR. [from OMIM]

MedGen UID:
147590
Concept ID:
C0730294
Disease or Syndrome
19.

Vitelliform macular dystrophy 5

Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). Vitelliform macular dystrophy-5 (VMD5) is characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG) (Meunier et al., 2014). Brandl et al. (2017) examined patients with IMPG2- and IMPG1 (602870)-associated VMD (see VMD4; 616151) and observed strikingly similar phenotypic characteristics. They noted that retinal lesions progressed in consecutive stages, with the initial development of a single vitelliform lesion in the central macula, with detachment of the neurosensory retina and hyperreflective material located above the seemingly preserved Bruch membrane/RPE seen on SD-OCT. Next, resorption of the hyperreflective material occurs, leaving behind a dome-shaped, optically empty cavity; alternatively, the foveal cavity formed by retinal detachment may become successively filled with material. Finally, there is collapse of the cavity with central retinal atrophy and loss of RPE, resulting in the most pronounced loss of visual acuity. The authors also noted that symptoms tended to be more severe in those with IMPG1 mutations. For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840). [from OMIM]

MedGen UID:
863780
Concept ID:
C4015343
Disease or Syndrome
20.

Optic atrophy 10 with or without ataxia, intellectual disability, and seizures

MedGen UID:
905727
Concept ID:
C4225227
Disease or Syndrome
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