Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies.

PURPOSE: To assess the prevalence of Cystoid macular edema (CME) in children with early onset retinal dystrophies (EORD) and to evaluate if there are associated factors and/or response to early treatment. METHODS: Consecutive, retrospective case series. Medical records of patients, 18 years or younger, diagnosed with EORD were included in the study. Optic coherence tomography (OCT) scans, clinical and genetic characteristics as well as other associated factors were analyzed. Main outcome was the presence of CME on OCT scans. RESULTS: One hundred and two children with EORD (aged 1-18 years, mean 9.7 ± 4.2) were recruited. OCT was performed in 60/102 and among them, 19/60 had CME (31.7%). The disease-causing gene was identified in 13 children with CME; autosomal-recessive inheritance was found in 88.3% of those with an identified genotype. Children with Usher syndrome had CME in 44.4% of the cases. Early treatment of CME resulted in variable response. CONCLUSIONS: Our results show that 31.7% of children with EORD who underwent OCT have macular edema. CME prevalence was found to be relatively higher in children with Usher syndrome. Autosomal recessive was the most prevalent inheritance identified in the EORD group as well as in the CME group. Additional prospective research is needed to assess the efficacy of early CME treatment in pediatric EORD patients.

False Positive Hemianopia.

A 70-year-old woman was urgently referred for neuro-ophthalmic evaluation when a routine visual field test demonstrated a pattern of bilateral nasal hemianopia. Detailed inspection of the visual field study revealed the hemianopias to be artifactual for the following reasons: (1) it was performed with an excessive number of false positive responses; (2) the grey scale plot had white patches, consistent with abnormally high sensitivity; (3) the total deviation probability maps were normal, indicating that no tested points had poor scores. Confrontational visual field testing was normal in all zones for both eyes. Repeated visual field testing showed no evidence of a true hemianopia. Even automated visual fields with highly specific abnormalities can merely be testing artifact. Scrutinize all components of the report before determining the clinical implications.

Cystoid macular edema secondary to ibrutinib.

PURPOSE: To describe a unique case of cystoid macular edema associated with Ibrutinib treatment for Chronic Lymphocytic Leukemia (CLL). OBSERVATIONS: A 73-year-old male patient presented to the ophthalmology clinic complaining of decreased vision in his seeing-eye ('only eye', left). Further clinal examination and imaging revealed the presence of a cystoid macular edema (CME). With no apparent cause to this condition, topical treatment with NSAIDS and steroids continued over two years with only partial response and persistent macular edema, resulting in decreased vision. Cessation of Ibrutinib treatment resulted in resolution of the macular edema and improvement in visual acuity over 6 months. CONCLUSIONS AND IMPORTANCE: Several novel oncologic therapies have been associated with CME in recent years. This case demonstrates an association between Ibrutinib an oral, irreversible inhibitor of Bruton's Tyrosine Kinase (BTK), and the development of CME. CME was resistant to topical treatment but resolved after treatment cessation. Along with two previous cases reported, this case suggests that CME is a rare adverse event of Ibrutinib therapy. Screening for CME in Ibrutinib treated patients who report visual symptoms should be considered.

Decompensated Superior Oblique Palsy Secondary to Bilateral Nutritional Optic Neuropathy Following Bariatric Surgery.

Optic neuropathy can occur secondary to nutritional deficiencies in patients who have undergone bariatric surgery. We present a unique case of a 39-year-old man, claiming to be generally healthy, who presented with intermittent vertical diplopia and bilateral decreased vision in each eye. Visual acuity was 6/18 in the right eye and 6/12 in the left eye. Ishihara testing was defective for both eyes. Automated visual fields showed a severe generalized reduction in sensitivity in both eyes. The patient had a left head tilt and a right intermittent hypertropia of 30 prism diopters in primary position. CT of the orbits revealed a right superior oblique of small caliber. On further questioning, the patient admitted to a history of bariatric surgery 7 years prior to presentation with failure to take any nutritional supplements. Blood work demonstrated deficiencies in folate, thiamine, and copper. Within 6 months of initiating nutritional supplements, the vision in each eye was markedly improved and the diplopia resolved. There was an associated normalization of thiamine and copper, but folate levels remained low. We believe that the nutritional deficiency caused a bilateral optic neuropathy and the resulting vision loss precipitated a manifestation of a congenital superior oblique palsy that had previously just been a phoria. The case emphasizes the importance of considering occult sensory etiologies of acquired strabismus.