Table 1.
Summary of the clinical findings of affected members of a pedigree with the homozygous mutation c498_499insC in MFRP
| Patient number | Age (years) | Sex | BCVA | Anterior segment findings | Posterior segment findings | Electrodiagnostics | Ocular coherence tomography |
|---|---|---|---|---|---|---|---|
| 1 | 61 | Female | 20/200 OD, 20/400 OS | Laser peripheral iridotomy for occludable angle in OU; posterior iris synechiae in OS secondary to acute unilateral non-granulomatous anterior uveitis; microcoria OU due to posterior synechiae; posterior subcapsular lens opacity (P3) OD, nuclear opalescence (NO4) lens opacity OS | Optic disc drusen, pigment clumping and bone-spicule pigmentation OU | Completely extinguished rod and cone responses OU | Diffuse macular thickening and foveoschisis OD; OCT assessment was unavailable in OS due to microcoria and lens opacity |
| 2 | 57 | Male | Hand motion OD, 20/200 OS | Laser peripheral iridotomy for occludable angle in OU, posterior iris synechiae OU secondary to acute bilateral non-granulomatous anterior uveitis; microcoria OU due to posterior synechiae, total lens opacity OD; nuclear opalescence (NO3) lens opacity OS | Optic disc drusen, pigment clumping and bone-spicule pigmentation OS; assessment of posterior segment OD was not possible due to lens opacity | Completely extinguished rod and cone responses OU | Diffuse macular thickening and foveoschisis OS; OCT assessment was unavailable in OD due to microcoria and lens opacity |
| 3 | 53 | Female | 20/70 OD, 20/90 OS | Laser peripheral iridotomy for occludable angle in bilaterally; nuclear opalescence (NO1) lens opacity bilaterally | Pigment clumping and bone-spicule pigmentation OU; absent optic disc drusen OU | Completely extinguished rod responses OU and markedly diminished cone responses OU | Diffuse macular thickening and foveoschisis bilaterally |
| 4 | 51 | Male | 20/90 OD, 20/100 OS | Laser peripheral iridotomy for occludable angle in bilaterally | Optic disc drusen, pigment clumping and bone-spicule pigmentation bilaterally | Completely extinguished rod responses OU and markedly diminished cone responses OU | Diffuse macular thickening and foveoschisis bilaterally |
BCVA, best-corrected visual acuity; OCT, optical coherence tomography.