Fig 1.
Distribution of mutations in consecutive, unrelated RP patients.
Genes mutated in patients who were reversely phenotyped (based on the genetic findings) are indicated by asterisk. The number of patients with mutations in the different genes is displayed on the right. Black, autosomal recessive. Blue, autosomal dominant. Green, X-linked.
Table 1.
More of inheritance based on family history, on genetic results, and mutation detection rate for each group.
Table 2.
Molecular findings in patients with unexpected genotyping results.
Fig 2.
Right eye of a patient with RP due to an CRX mutation.
(A) widefield false-color image, fundus AF with (B) 488 nm and (C) 787 nm excitation light, and (D) spectral-domain optical coherence tomography. Only one eye is shown due to high symmetry between eyes.
Fig 3.
Left fundus of a 70-year-old women with RP caused by compound-heterozygous CEP290 mutations.
(A) widefield fundus imaging, (B, C) near infrared reflectance imaging, (D) spectral-domain optical coherence tomography. Only one eye is shown due to high symmetry between eyes.
Fig 4.
Right eye of a patient with RP and a homozygous RPGRIP1 mutation.
Fundus color image (A), fundus AF with (B) 488 nm and (C) 787 nm excitation light, (D, E) spectral-domain optical coherence tomography. Only one eye is shown due to high symmetry between eyes.
Fig 5.
Left eye of a patient with RP and a homozygous MFSD8 mutation.
(A) widefield false-color image, fundus AF with (B) 488 nm and (C) 787 nm excitation light, (D) spectral-domain optical coherence tomography. Only one eye is shown because there was high similarity of both eyes.
Fig 6.
Phenotype of an RP patient with an RP2 mutation.
A-D right eye, E-H left eye Right eye: (A, E) widefield fundus imaging and (B, F) widefield fundus autofluorescence, (C, D, G, H) spectral-domain optical coherence tomography.
Fig 7.
Phenotype of an RP patient with an RPGR mutation.
A-E right eye, F-J left eye: Fundus color imaging (A, D), fundus autofluorescence with 488 nm excitation light (B, E) and (C, F) spectral-domain optical coherence tomography.
Fig 8.
Phenotype of an RP patient with an RPGR mutation.
(A) widefield fundus AF, (B) widefield false-color image and (C, D) spectral-domain optical coherence tomography. Only one eye is shown due to high symmetry between eyes.