Ocular findings in cats with blastomycosis: 19 cases (1978–2019)

OBJECTIVE To document ocular findings in cats with blastomycosis. ANIMALS 35 cats with blastomycosis. PROCEDURES Medical records from 1978 through 2019 were reviewed to identify cats with confirmed Blastomyces infection. Cats were grouped as having or not having ocular involvement. Clinical signs, histopathologic findings, and response to treatment were evaluated. RESULTS 21 of the 35 (60%) cats with confirmed blastomycosis had ocular abnormalities. Two of 21 cats with ocular abnormalities also had systemic hypertension and were excluded. Of the remaining 19 cats, 15 (79%) had bilateral ocular signs. Ten (53%) cats had inflammatory ocular lesions, and 9 (47%) had neuro-ophthalmic abnormalities. Six of the 19 (32%) cats appeared to be completely blind, and 5 (26%) appeared to be unilaterally blind. For the 10 cats with inflammatory ocular lesions, the most common lesions were anterior uveitis (9/20 eyes), active chorioretinitis (6/20 eyes), and retinal detachment (4/20 eyes). For the 9 cats with neuro-ophthalmic abnormalities, the most common abnormalities were a negative menace or tracking response (10/18 eyes) and negative pupillary light response (4/18 eyes). CLINICAL RELEVANCE Results suggested that ocular involvement is common in cats with blastomycosis and that both inflammatory lesions and neuro-ophthalmic abnormalities can be seen. Blastomycosis should be considered in the differential diagnosis for cats with anterior uveitis, posterior segment inflammation, or neuro-ophthalmic abnormalities, and a complete ophthalmic examination should be performed in all cats with confirmed or suspected blastomycosis.

Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia

Ocular abnormalities occur frequently in Friedreich’s ataxia (FRDA), although visual symptoms are not always reported. We evaluated a cohort of patients with FRDA to characterise the clinical phenotype and optic nerve findings as detected with optical coherence tomography (OCT). A total of 48 patients from 42 unrelated families were recruited. Mean age at onset was 13.8 years (range 4–40), mean disease duration 19.5 years (range 5–43), mean disease severity as quantified with the Scale for the Assessment and Rating of Ataxia 22/40 (range 4.5–38). All patients displayed variable ataxia and two-thirds had ocular abnormalities. Statistically significant thinning of average retinal nerve fibre layer (RNFL) and thinning in all but the temporal quadrant compared to controls was demonstrated on OCT. Significant RNFL and macular thinning was documented over time in 20 individuals. Disease severity and visual acuity were correlated with RNFL and macular thickness, but no association was found with disease duration. Our results highlight that FDRA is associated with subclinical optic neuropathy. This is the largest longitudinal study of OCT findings in FRDA to date, demonstrating progressive RNFL thickness decline, suggesting that RNFL thickness as measured by OCT has the potential to become a quantifiable biomarker for the evaluation of disease progression in FRDA.

Ocular abnormalities in Polish Hunting Dogs

This study aimed to describe and determine the prevalence of ocular abnormalities in Polish Hunting Dogs. The study was conducted with 193 Polish Hunting Dogs: 101 female and 92 male animals, aged between 3 months and 12 years. Ophthalmic examinations were performed using slit lamp biomicroscopy, ophthalmoscopy, and tonometry based on the ophthalmological protocol for the examination of hereditary eye diseases. Spectral-domain optical coherence tomography (SD-OCT) was performed for dogs with sudden acquired retinal degeneration syndrome (SARDS) and progressive retinal atrophy (PRA), while electroretinography was also performed in dogs with SARDS. Five dogs (2.6%) were diagnosed with cataract, iris coloboma in 3 dogs (1.6%), ocular dermoid in 1 dog (0.5%), and retinal dysplasia, distichiasis and entropion in 1 dog (1%). Three dogs (1.6%) were diagnosed with PRA and SARDS occurred in 1 dog. Retinal lesions was observed in 16 dogs (8.3%). The clinical signs of retinopathy observed in Polish Hunting Dogs included discoloration of the tapetal fundus, patchy increased reflectivity in the region of discoloration, focus of hyperpigmentation and an area of tapetal hyper-reflectivity with a pigmented center. SD-OCT performed in the 3 dogs with PRA revealed alteration in the retinal layers, which was most advanced in the non-tapetal fundus. Although SD-OCT revealed retinal layers with normal architecture only in some parts of the dorsal, nasal and temporal regions in dogs with SARDS, areas of disorganized external limiting membrane, myeloid zone, ellipsoid zone, outer photoreceptor segment and interdigitation zone were also observed. Polish Hunting Dogs should undergo periodic ophthalmological examination for the evaluation of other hereditary eye diseases. The prevalence of retinal lesions in Polish Hunting Dogs requires further research.

Retinal abnormalities in universal eye screening of healthy, full-term newborn infants in Jakarta. The incidence and its risk factors: a pilot study

Aim To screen for ocular abnormalities in healthy full-term newborn infants using wide-field digital imaging and to analyze factors associated with the findings. Methods A total of 1208 full-term newborn infants at a tertiary eye hospital (Cipto Mangunkusumo National Referral Hospital) and a district hospital in Jakarta (Koja Hospital) were enrolled to the study. All eligible newborns underwent fundus examination within 48 h after birth using the RetCam shuttle (Natus Medical Incorporated, USA). Retinal findings were documented and analyzed according to obstetric and neonatal risk factors. Results Of the 1208 newborn infants enrolled, ocular abnormalities were found in 150 infants (12.4%). Retinal hemorrhage (RH) was the most common finding (88%) in which 2.67% involved the macula, followed by chorioretinitis (4.67%). Univariate analysis showed caesarean section (C-section) (OR 0.27, 95% CI 0.18–0.41, p < 0.001) was a protective factor against RH, while prolonged labor increased the risk of developing RH (OR 1.84, 95% CI 1.24–2.72, p = 0.002). Further multivariate analysis showed similar protective association between C-section and risk of RH (OR 0.29, 95% CI 0.19–0.44, p < 0.001), while other risk factors were not. Conclusions Our study showed that universal eye screening in healthy neonates is beneficial in the early diagnosis, monitoring and treatment of ocular abnormalities such as retinal hemorrhage, chorioretinitis and retinoblastoma. Retinal hemorrhage is the most common ocular abnormality and is associated with the delivery method and the duration of labor. Universal eye screening is visual-saving and life-saving for neonates with chorioretinitis, retinoblastoma as well as other abnormalities and should be mandatory in newborn screening.

A Case Report of COL4A5 Gene Mutation Alport Syndrome in 2 Native African Children

Alport syndrome is a heterogeneous genetic disease involving the basement membrane of the glomeruli, inner ear, retina, and lens capsule. It typically manifests as progressive glomerulopathy that frequently results in end-stage renal disease, high-tone sensorineural deafness, and ocular abnormalities of anterior lenticonus and yellow and white dots and flecks on the macular of the retina. In this report, we describe the cases of 2 siblings: 15- and 13-year-old boys of pure African descent with the <i>COL4A5</i> gene mutation. Both children had the classical features of Alport syndrome haematuria, proteinuria, progressive sensorineural high-tone hearing loss, and ocular abnormalities. Their renal abnormalities initially regressed on therapy with angiotensin-converting enzyme inhibitors but reoccurred, depicting the need for early diagnosis as the early institution of this therapy before significant glomerulopathy is advocated.

Clinical and Imaging Profile of Patients with Joubert Syndrome

Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features in a cohort of patients with JS.Methods This was a retrospective chart review of patients with JS evaluated by movement disorder specialists.Results Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.Conclusion Facial dysmorphism, ocular abnormalities and classical imaging findings were observed in all patients with JS. Apart from ataxia, dystonia and myoclonus are other movement disorders observed in JS.