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Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina. BCM is a recessive X-linked disease and almost exclusively affects XY karyotypes.
Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life.
Ocular albinism type 1 (OA1) is the most common type of ocular albinism, with a prevalence rate of 1:50,000. [1] [2] It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal.
Norrie disease is a rare X-linked recessive genetic disorder that primarily affects the eyes and almost always leads to blindness.It is caused by mutations in the Norrin cystine knot growth factor gene, also referred to as Norrie Disease Pseudoglioma (NDP) gene.
Also known as Forsius–Eriksson syndrome [8] [9] or "Åland eye disease", mostly affects males, though females are often carriers and can sometimes be symptomatic; it is frequently linked with protanopic dichromacy (a form of color blindness) and with night blindness . Ocular albinism with sensorineural deafness (OASD) 300650? (Xp22.3)
The most common X-linked recessive disorders are: [7] Red–green color blindness, also known as daltonism, [8] which affects roughly 7% to 10% of men and 0.49% to 1% of women. Its relative benignity may explain its commonness.
CRB1 (autosomal recessive, RP12) ABCA4 (autosomal recessive, RP19) RPE65 (autosomal recessive, RP20) [30] For all other genes (e.g. DHDDS), molecular genetic testing is available on a research basis only. RP can be inherited in an autosomal dominant, autosomal recessive, X-linked or Y-linked [31] manner.
Because the colorblind alleles are recessive, colorblindness follows X-linked recessive inheritance. Males have only one X chromosome (karyotype XY), and females have two (karyotype XX); Because the male only has one allele of each gene, if it is missing or chimeric, the male will be color blind. Because a female has two alleles of each gene ...