User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Cone-Rod Dystrophy 1
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Cone-rod dystrophy 1 (often related to changes in the CDHR1 gene) is a rare inherited eye disease. It slowly damages the cone cells (used for sharp central and ...

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PRPH2-Related Cone-Rod Dystrophy
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PRPH2-related cone-rod dystrophy is a rare, inherited eye disease that damages the light-sensitive cells (cones and rods) in the retina because of harmful ...

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Cone-Rod Retinal Dystrophy
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Cone-rod retinal dystrophy is a rare genetic eye disease that slowly damages the light-sensing cells (cones first, then rods) in the retina, the thin layer at ...

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Cone-Rod Degeneration
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Cone-rod degeneration (also called cone-rod dystrophy) is a rare, inherited eye disease that slowly damages the light-sensitive cells (photoreceptors) in the ...

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Cone-Rod Dystrophy (CRD)
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Cone-rod dystrophy (CRD) is a group of rare genetic eye diseases where cone cells (for central, color, and daytime vision) are damaged first and rod cells (for ...

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X-Linked Incomplete Achromatopsia
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X-linked incomplete achromatopsia is a rare inherited eye disorder present from birth. It mainly affects the cone cells in the retina, which are the cells that ...

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Incomplete Achromatopsia
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Incomplete achromatopsia is a rare, inherited eye condition where cone cells in the retina partly work but not normally. People usually have reduced vision, ...

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Blue Mono-Cone Monochromatic Type Colorblindness
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Blue mono-cone monochromatic type colorblindness is usually called blue cone monochromacy (BCM). It is a rare, inherited eye disease. In this condition, the ...

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Blue Cone Monochromatism
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Blue cone monochromatism, also called blue cone monochromacy, is a rare inherited eye disease present from birth. In this condition, the red-sensing cones and ...

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Blue Cone Monochromacy (BCM)
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Blue cone monochromacy (BCM) is a very rare eye disease that a person is born with. In this condition, the red and green cone cells in the retina do not work, ...

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Atypical X-Linked Achromatopsia
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Atypical X-linked achromatopsia is a rare eye disease that affects how the cone cells in the retina work. Cone cells help us see fine detail and color. In this ...

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Cone Monochromatism
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Cone monochromatism is a rare eye problem where a person has only one working type of cone cell in the retina, instead of three different cone types like most ...

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Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
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Cone dystrophy, X-linked, with tapetal-like sheen is a very rare inherited eye disease that mainly affects the light-sensitive cone cells in the retina (the ...

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Retinal Cone Dystrophy Type 3B
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Retinal cone dystrophy type 3B is a very rare inherited eye disease that mainly damages the cone cells in the retina, which are the light-sensitive cells ...

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Cone Dystrophy with Supernormal Scotopic Electroretinogram
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Cone dystrophy with supernormal scotopic electroretinogram is a rare, inherited eye disease that mainly damages the cone cells in the retina, and later also ...

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Cone Dystrophy with Supernormal Rod Electroretinogram
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Cone dystrophy with supernormal rod electroretinogram is a rare eye disease that damages the light-sensing cells in the retina, especially the cone cells in ...

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Cone Dystrophy with Supernormal Rod Response (CDSRR)
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Cone dystrophy with supernormal rod response (CDSRR) is a very rare inherited eye disease where the cone cells in the retina slowly stop working properly, and ...

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Cone Dystrophy
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Cone dystrophy is a rare eye disease where the cone cells in the retina slowly stop working properly. Cone cells are the light-sensing cells that help you see ...

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Jackson-Barr Syndrome
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Jackson-Barr syndrome is a very rare genetic condition that affects hearing, the eyelids, the skeleton (bones and joints), and some parts of the skin, hair, ...

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Conductive Hearing Loss-Ptosis-Skeletal Anomalies Syndrome
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Conductive hearing loss-ptosis-skeletal anomalies syndrome is a very rare genetic condition. In this syndrome, the tiny passages and bones in the outer and ...

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