Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene.

BACKGROUND: Pseudoxanthoma elasticum (PXE) is an autosomal recessive condition caused by mutations in the ABCC6 gene. Ocular features include angioid streaks, peau d'orange fundus, and drusen. We report a novel ABCC6 mutation causing PXE in a patient with a mixed phenotype of PXE and retinitis pigmentosa (RP). CASE: A 37-year-old female presented with decreased peripheral vision and nyctalopia. Ocular imaging revealed angioid streaks emanating from the optic nerve as well as peripheral pigmentary changes and bone spicules. Genetic testing revealed two mutations in ABCC6 in trans. No other mutation was identified. CONCLUSION: We present a rare case with ocular findings of PXE and RP in a patient with a novel ABCC6 mutation. The patient presented both with peripheral pigmentary changes and angioid streaks. Further investigation into this novel mutation would be beneficial to determine if the mutation is involved in the RP phenotype.

Effect of Macular Internal Limiting Membrane Peeling on Single Surgery Success Rates of Vitrectomy for Uncomplicated, Primary Macula-Off Retinal Detachment.

Purpose: To determine the anatomic and visual outcomes of pars plana vitrectomy for uncomplicated, primary macula-off rhegmatogenous retinal detachment (RRD) with and without internal limiting membrane (ILM) peeling. Methods: This retrospective chart review comprised 129 patients with uncomplicated, primary macula-off RRD presenting between January 1, 2016, and May 31, 2021. Thirty-six patients (27.9%) had ILM peeling and 93 (72.0%) did not. The primary outcome was the rate of recurrent RRD. Secondary outcomes included preoperative and postoperative best-corrected visual acuity (BCVA), epiretinal membrane (ERM) formation, and macular thickness. Results: No significant difference was found in the risk for recurrent RRD between patients who had ILM peeling and those who did not (2.8% [1/36] and 5.4% [5/93], respectively) (P = 1.00). The final postoperative BCVA was better in eyes that did not have ILM peeling (P< .001). No ERM occurred in the group with ILM peeling, whereas ERM occurred in 27 patients (29.0%) who did not have ILM peeling. The temporal macular retina was thinner in eyes in which ILM peeling was performed. Conclusions: The risk for recurrent RRD was not statistically lower in eyes having ILM peeling of the macula in uncomplicated, primary macula-off RRD. Despite a reduction in postoperative ERM formation, eyes having macular ILM peeling had worse postoperative VA.

Neurofibromatosis type 1 presenting with retinal detachment and laryngeal plexiform neurofibroma in a toddler.

PURPOSE: To present a 22-month-old girl with a complete retinal detachment who was found to have systemic exam findings consistent with neurofibromatosis type 1 during the course of multi-specialty exam under anesthesia. OBSERVATIONS: During examination under anesthesia, ophthalmic exam findings demonstrated retinal detachment with cyst formation, as well as peripheral non-perfusion of the retina in the left eye. Non-ophthalmic findings discovered on difficulty with intubation included a laryngeal plexiform neurofibroma and café-au-lait spots. CONCLUSIONS: Pediatric retinal detachments are uncommon compared to those in adults. Pediatric patients with neurofibromatosis type 1 can present with vision loss as the presenting symptom. Systemic signs and symptoms should be carefully screen and monitored.

CONVERSION OF FOCAL CHOROIDAL EXCAVATION WITH THE ONSET OF CENTRAL SEROUS CHORIORETINOPATHY: REPORT OF 2 CASES AND REVIEW OF THE LITERATURE.

PURPOSE: To describe two cases of focal choroidal excavation (FCE) conversion in patients with central serous chorioretinopathy. METHODS: Case report and literature review of cases of FCE conversion. RESULTS: A 35-year-old asymptomatic pregnant patient was found to have conforming FCE on spectral domain optical coherence tomography of the right eye during hydroxychloroquine screening. Three months later, she presented with decreased vision in the right eye and subretinal fluid in both eyes secondary to central serous chorioretinopathy. Spectral domain optical coherence tomography revealed that her FCE had changed to nonconforming type. A 40-year-old male patient was found to have nonconforming FCE and subretinal fluid in his right eye on spectral domain optical coherence tomography. On follow-up, spectral domain optical coherence tomography demonstrated resolution of subretinal fluid and conversion of nonconforming FCE to conforming type. Literature review showed that most cases of FCE remain stable over time. Conversion from nonconforming FCE to conforming type has been described after photodynamic therapy or anti-vascular endothelial growth factor therapy. Conversion from conforming to nonconforming type has been described in 2 cases that developed subretinal fluid in the setting of acute central serous chorioretinopathy. CONCLUSION: Our cases and literature review suggest that nonconforming FCE is the result of persistent subretinal fluid. Further studies are necessary to determine whether symptomatic nonconforming SRF needs treatment to reduce subretinal fluid.

INCREASED PHOTORECEPTOR OUTER SEGMENT VOLUME FOLLOWING SYSTEMIC TREATMENT OF BIRDSHOT CHORIORETINOPATHY.

PURPOSE: Retinal degeneration in birdshot chorioretinopathy can be quantified using spectral domain optical coherence tomography by measuring the photoreceptor outer segment (PROS) volume. The purpose of this study was to determine if the PROS volume in BSCR responds to systemic immunomodulatory therapy (IMT). METHODS: Retrospective chart review with analysis of PROS volume derived from spectral domain optical coherence tomography. RESULTS: We identified a total of three patients who met our inclusion criteria. At baseline, all patients had abnormal PROS and/or ellipsoid layer findings on spectral domain optical coherence tomography. After systemic immunomodulatory therapy, these abnormalities improved, and PROS volume increased, in all patients (P < 0.05). CONCLUSION: PROS volume can increase after systemic treatment of birdshot chorioretinopathy. This SD-OCT parameter may serve as a useful marker of retinal degeneration in BSCR, and may be a useful outcome measure in monitoring treatment response in birdshot chorioretinopathy.

Ocular manifestations in a family with brachio-oculo-facial syndrome.

We report 3 siblings with brachio-oculo-facial syndrome (BOFS) who present with the predominant ocular phenotype. This syndrome has rarely been reported in multiple first-degree relatives.