ABSTRACT
Spondyloocular syndrome (SOS) is a rare autosomal-recessive disorder. Since 2015, SOS has been linked to mutations in xylosyltransferase II (XYLT2) locus. Phenotypic features could affect multiple systems, such as sight, hearing, or bones. Herein, we report a case of SOS with multiple bone fractures without trauma, bilateral cataracts, and sensorineural hearing loss. Mutations in XYLT2 gene were detected, and the diagnosis of SOS was made. At the age of 8, the patient presented with progressive vision loss. Slit-lamp examination revealed inferior steepening, apical scarring, and thinning of the cornea. Due to keratoconus suspicion, a corneal tomography was done, confirming the diagnosis of keratoconus. We present the first case of bilateral keratoconus in a patient with SOS.
ABSTRACT
PURPOSE: To determine the impact of different baseline clinical characteristics on the improvement in best corrected visual acuity (BCVA) in patients with diabetic macular edema (DME) who underwent the intravitreal dexamethasone implant (DEX) Ozurdex®. METHODS: This was a single center retrospective study conducted on patients with DME, either naïve or previously treated, who were treated with one or more DEX and had a follow-up of at least 6 months. The main outcome measure was the proportion of DEX achieving an improvement ≥15 letters in BCVA. RESULTS: The study analyzed 192 DEX implants administered to 97 eyes (65 patients). Among the 192 DEX analyzed, 57 (29.7%) implants achieved a BCVA improvement ≥15 letters (ETDRS) from baseline, with a mean time for achieving such improvement of 89.2 (39.7) days. Eyes who received an additional DEX and those with a duration of DME < 6 months had a greater probability of achieving a BCVA improvement ≥15 letters (odds-ratio: 2.55, p = 0.0028 and odds-ratio: 1.93, p = 0.0434). The mean (standard deviation) change in BCVA from baseline was 7.5 (14.5) letters, p < 0.0001. The mean change in central macular thickness (CMT) from baseline was -128.0 (151.0) µm, p < 0.0001. The mean number of DEX implanted was 1.9 (0.8). Four (2.1%) DEX experienced an intraocular pressure increased ≥10 mm Hg; all the cases were successfully managed with topical antiglaucoma medication. CONCLUSION: The results of this study confirmed previous evidence suggesting that DEX is effective for improving BCVA and CMT in patients with DME.
ABSTRACT
PURPOSE: To highlight the challenge of correct reproductive and therapeutic counseling in complex pedigrees with different inherited retinal dystrophies (IRD). METHODS: Two hundred eight patients diagnosed with nonsyndromic IRD underwent full ophthalmologic examination and molecular analysis using targeted next-generation sequencing. RESULTS: Five families (4%) carried mutations in more than one gene that contribute to different IRD. Family fRPN-NB had a dominant mutation in SNRNP200, which was present in nine affected individuals and four unaffected, and a mutation in RP2 among 11 family members. Family fRPN-142 carried a mutation in RPGR that cosegregated with the disease in all affected individuals. In addition, the proband also harbored two disease-causing mutations in the genes BEST1 and SNRNP200. Family fRPN-169 beared compound heterozygous mutations in USH2A and a dominant mutation in RP1. Genetic testing of fRPN-194 determined compound heterozygous mutations in CNGA3 and a dominant mutation in PRPF8 only in the proband. Finally, fRPN-219 carried compound heterozygous mutations in the genes ABCA4 and TYR. CONCLUSION: These findings reinforce the complexity of IRD and underscore the need for the combination of high-throughput genetic testing and clinical characterization. Because of these features, the reproductive and therapeutic counseling for IRD must be approached with caution.