Title: EyeRounds / Retina and Vitreous / StoneRounds / Gene Matching

Q: [...]
[5]
A: Autosomal Recessive Retinitis Pigmentosa; USH2A
EYS
FAM161a
MAK
PDE6B
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StoneRounds.org

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[...]
A: Batten Disease; CLN3
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StoneRounds.org

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[3]
A: Autosomal Recessive Cone Dystrophy; ABCA4
MERTK
CERKL
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StoneRounds.org

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[...]
A: Senior-Loken Syndrome; NPHP1
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StoneRounds.org

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[...]
A: Joubert Syndrome; INPP5E
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StoneRounds.org

Q: [...]
[2]
A: Usher Syndrome; USH2A
MYO7A
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StoneRounds.org

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[...]
A: Bardet Biedl Syndrome; BBS1
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StoneRounds.org

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[...]
A: Microcephaly-Chorioretinopathy-Lymphedema Syndrome; KIF11
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StoneRounds.org

Q: [...]
[8]
A: Leber Congenital Amaurosis; CEP290
CRB1
RDH12
IQCB1/NPHP5
GUCY2D
NMNAT1
CRX
RPE65
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StoneRounds.org

Q: [...]
[...]
A: Retinitis Pigmentosa with Ataxia; FLVCR1
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StoneRounds.org

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[...]
A: Severe Early Childhood Onset Retinal Dystrophy (SECORD); RDH12
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StoneRounds.org

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[...]
A: Peroxisomal Biogenesis Disorders; PEX1
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StoneRounds.org

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[...]
A: Early Childhood Onset Retinal Dystrophy (ECORD); CRB1
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StoneRounds.org

Q: [...]
[...]
A: Retinitis Pigmentosa with Anemia; TRNT1
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StoneRounds.org

Q: [...]
[2]
A: Achromatopsia; CNGB3
CNGA3
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StoneRounds.org

Q: [...]
[...]
A: Blue cone monochromacy; LM opsin cluster
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StoneRounds.org

Q: [...]
[...]
A: Best disease; BEST1
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StoneRounds.org

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[...]
A: Congenital stationary night blindness; NR2E3
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StoneRounds.org

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[...]
A: Pattern dystrophy; PRPH2
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StoneRounds.org

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[...]
A: Congenital stationary synaptic dysfunction; CACNA1F
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StoneRounds.org

Q: [...]
[...]
A: Pseudoxanthoma elasticum; ABCC6
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StoneRounds.org

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[...]
A: Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes (MELAS); MT-TL1 (3243)
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StoneRounds.org

Q: [...]
[...]
A: Autosomal recessive Stargardt disease; ABCA4
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StoneRounds.org

Q: [...]
[...]
A: Malattia Leventinese; EFEMP1
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StoneRounds.org

Q: [...]
[...]
A: Occult macular dystrophy; RP1L1
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StoneRounds.org

Q: [...]
[...]
A: Choroideremia; CHM
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StoneRounds.org

Q: [...]
[...]
A: Stargardt-like dominant macular dystrophy; ELOVL4
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StoneRounds.org

Q: [...]
[...]
A: Retinoschisis; RS1
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StoneRounds.org

Q: [...]
[...]
A: North Carolina macular dystrophy; PRDM13
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StoneRounds.org

Q: [...]
[...]
A: Dominant optic atrophy; OPA1
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StoneRounds.org

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[...]
A: Sorsby fundus dystrophy; TIMP3
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StoneRounds.org

Q: [...]
[...]
A: Tumors  (von Hippel Lindau); VHL
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StoneRounds.org

Q: [...]
[2]
A: X-linked Retinitis Pigmentosa; RPGR
RP2
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StoneRounds.org

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[...]
A: X-linked Cone Dystrophy; RPGR
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StoneRounds.org

Q: [...]
[...]
A: Vitreoretinopathies (Stickler syndrome); COL2A1
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StoneRounds.org

Q: [...]
[4]
A: Autosomal Dominant Retinitis Pigmentosa; RHO
PRPF31
PROM1
RP1
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StoneRounds.org

Q: [...]
[...]
A: Albinism; TYR
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StoneRounds.org

Q: [...]
[...]
A: Isolated Foveal hypoplasia; PAX6
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StoneRounds.org

Q: [...]
[2]
A: Autosomal Dominant Cone Dystrophy; GUCA1A
GUCY2D
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StoneRounds.org

Q: [...]
[...]
A: Cohen Syndrome; VPS13B