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Table 1 Demographics and genetics

From: Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

ID

Sex

Gene

Pedigree

c.DNA

Protein

Zygosity

Inheritance mode

Phenotype

Age of onset

Presenting symptom

P1

F

PRPF8

GC23684

c.5804G > A

p.Arg1935His

Heterozygous

Autosomal Dominant

EOSRD

At Birth

Decreased vision

P2

F

PRPH2

GC21703

c.620_627delinsTA

p.Asp207_Gly208del

Homozygous

Autosomal Recessive

EOSRD

At Birth

Nystagmus

P3‡

F

RP1

GC21938

c.4147_4151delGGATT

p.Gly1383*

Homozygous

Autosomal Recessive

EOSRD

6 months

Nystagmus

P4‡

M

RP1

GC21938

c.4147_4151delGGATT

p.Gly1383*

Homozygous

Autosomal Recessive

EOSRD

7 months

Nyctalopia

P5†

F

RPGR

GC17432

c.1894_1897delGACA

p.Asp632Lysfs*4

Heterozygous

X-linked

LCA/EOSRD

4 months

Nystagmus

C1†

F

RPGR

GC17432

c.1894_1897delGACA

p.Asp632Lysfs*4

Heterozygous

X-linked

Carrier

NA

Asymptomatic Screening at X years old

  1. F female, M male, NA not available, LCA leber congenital amaurosis, EOSRD early-onset severe retinal dystrophy
  2. The variants in bold are novel. ‡Siblings, †P5 is mother of C1