Supplementary Material for: Femtosecond LASER-Assisted Double Intraocular Lens Exchange in Nanophthalmic Eyes

Introduction: Though patients with nanophthalmos frequently endure decreased quality of vision with contact lenses or spectacles, refractive surgery is generally an inadequate alternative due to the associated high refractive error. A refractive lens exchange (RLE) is an alternative option but is technically challenging, requiring accuracy in biometry measurements and procedures. Case Presentation: This case discusses a 27-year-old female with nanophthalmos (axial lengths 17.6 mm and 17.4 mm, right and left eyes, respectively) who underwent a femtosecond laser-assisted (FLA) RLE with simultaneous implantation of a monofocal and a Sulcoflex trifocal (Rayner, Britain) lens in each eye. Preoperative cycloplegic refraction was +11.50/−0.75 × 145 and +12.00/−1.00 × 35 in the RE and LE, respectively. Best-corrected visual acuity (BCVA) at distance and near in the RE and LE was 6/7.5 and J1, 6/8.5 and J2, respectively. Uncorrected visual acuity (UCVA) was >6/120 and >J14 for each eye. FLA RLE was performed in the RE, then in the LE 2 weeks later. In each eye, a monofocal (44.0 D, RE, and LE) and a Sulcoflex trifocal lens (both implants, Rayner, Britain) were implanted in one procedure. Distance and near UCVA measured 6 weeks post-op RE and 1-month post-op LE at 6/8.5 and J1 in the RE, 6/10 and J1 in the LE. The RE and LE refraction and BCVA were +0.50/−1.00 × 115, 6/7.5, and plano/−1.00 × 55, 6/8.5, respectively. The post-op outcomes were uneventful. Conclusion: A single procedure concurrently implanting a monofocal and Sulcoflex trifocal intraocular lens in nanophthalmic eyes resulted in an excellent UCVA. This procedure can be considered esthetic and reconstructive as it significantly improves patient appearance and function

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

Contains fulltext : 89392.pdf (publisher's version ) (Closed access)Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases caused by progressive degeneration of the photoreceptor cells. Using autozygosity mapping, we identified two families, each with three affected siblings sharing large overlapping homozygous regions that harbored the IMPG2 gene on chromosome 3. Sequence analysis of IMPG2 in the two index cases revealed homozygous mutations cosegregating with the disease in the respective families: three affected siblings of Iraqi Jewish ancestry displayed a nonsense mutation, and a Dutch family displayed a 1.8 kb genomic deletion that removes exon 9 and results in the absence of seven amino acids in a conserved SEA domain of the IMPG2 protein. Transient transfection of COS-1 cells showed that a construct expressing the wild-type SEA domain is properly targeted to the plasma membrane, whereas the mutant lacking the seven amino acids appears to be retained in the endoplasmic reticulum. Mutation analysis in ten additional index cases that were of Dutch, Israeli, Italian, and Pakistani origin and had homozygous regions encompassing IMPG2 revealed five additional mutations; four nonsense mutations and one missense mutation affecting a highly conserved phenylalanine residue. Most patients with IMPG2 mutations showed an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. The patient with the missense mutation, however, was diagnosed with maculopathy. The IMPG2 gene encodes the interphotoreceptor matrix proteoglycan IMPG2, which is a constituent of the interphotoreceptor matrix. Our data therefore show that mutations in a structural component of the interphotoreceptor matrix can cause arRP

Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases caused by progressive degeneration of the photoreceptor cells. Using autozygosity mapping, we identified two families, each with three affected siblings sharing large overlapping homozygous regions that harbored the IMPG2 gene on chromosome 3. Sequence analysis of IMPG2 in the two index cases revealed homozygous mutations cosegregating with the disease in the respective families: three affected siblings of Iraqi Jewish ancestry displayed a nonsense mutation, and a Dutch family displayed a 1.8 kb genomic deletion that removes exon 9 and results in the absence of seven amino acids in a conserved SEA domain of the IMPG2 protein. Transient transfection of COS-1 cells showed that a construct expressing the wild-type SEA domain is properly targeted to the plasma membrane, whereas the mutant lacking the seven amino acids appears to be retained in the endoplasmic reticulum. Mutation analysis in ten additional index cases that were of Dutch, Israeli, Italian, and Pakistani origin and had homozygous regions encompassing IMPG2 revealed five additional mutations; four nonsense mutations and one missense mutation affecting a highly conserved phenylalanine residue. Most patients with IMPG2 mutations showed an early-onset form of RP with progressive visual-field loss and deterioration of visual acuity. The patient with the missense mutation, however, was diagnosed with maculopathy. The IMPG2 gene encodes the interphotoreceptor matrix proteoglycan IMPG2, which is a constituent of the interphotoreceptor matrix. Our data therefore show that mutations in a structural component of the interphotoreceptor matrix can cause arRP