Table 3.
Genotype and phenotype data.
| Family | PRPH2 Gene Mutations |
PRPH2 Gene Mutation Type |
Location of Mutation in the Prph2 Protein Domain | Global Allele Frequency | Accession Number | Phenotypes of our Patients | All Phenotypes Described |
|---|---|---|---|---|---|---|---|
| 1 (3 patients) | c.136C>T, p.Arg46Ter | Nonsense | ID1 | 1.59115 × 10−5 | rs61755771 | AVMD: F1-II-2, F1-II-3, and F1-II-4 | AVMD [13] |
| 2 (1 patient) | c.136C>T, p.Arg46Ter +ABCA4: c.6079C>T, p.Leu2027Phe and c.5929G>A, p.Gly1977Ser |
Nonsense | ID1 | 1.59115 × 10−5 | rs61751408 rs61750639 |
ECA: F2-III-6 |
ECA [current study] (blended phenotype) |
| 3 (1 patient) | c.461_463del, p.Lys154del +ABCA4: c.6089G>A, p.Arg2030Gln |
Amino acid deletion | ID2 | Unknown | rs61755786 rs61750641 |
PDsFF: F3-V-2 |
ADRP [14] PDsFF [current study] |
| 4 (3 patients) | c.499G>A, p.Gly167Ser | Missense | ID2 | 1.59280 × 10−5 | rs527236098 |
ADRP: F4-III-1 ECA: F4-IV-1 PDsFF: F4-IV-2 |
PD [15] PDsFF [current study] ECA [current study] ADRP [current study] |
| 5 (12 patients) | c.584G>T, p.Arg195Leu | Missense | ID2 | 3.98349 × 10−6 | rs121918567 |
CACD: F5a-III-2, F5a-III-7, F5a-III-8, F5aIII-10, F5b-IV-2, and F5c-IV-4 ECA: F5b-III-4, F5b_IV-1, F5b-IV-4, F5c-V-2, and F5c-VI-2 ADRP: F5d-VI-1 |
CACD [16] ECA [13] ADRP [current study] |
| 6 (2 patients) | c.625G>A, p.Val209Ile | Missense | ID2 | 1.98877 × 10−5 | rs753657349 | AVMD: F6-I-5 and F6-II-2 | AVMD [13] |
| 7 (1 patient) | c.646C>T, p.Pro216Ser | del | ID2 | Unknown | rs61755805 | ADRP: F7-III-1 | ADRP [17] |
| 8 (1 patient) | c.824_828+3delinsCATTTGGGCTCCTCATTTGG | del/ins | TM4 | Not previously described | AVMD: F8-II-2 | AVMD [current study] |
ID2, intradiscal domain 2; ID1, intradiscal domain 1; TM4, transmembrane domain 4; AVMD, adult-onset vitelliform macular dystrophy; ECA, extensive chorioretinal atrophy; ADRP, autosomal-dominant retinitis pigmentosa; PD, pattern dystrophy; PDsFF: pattern dystrophy simulating fundus flavimaculatus; CACD, central areolar choroidal dystrophy.