This comprehensive structural and functional characterization of a large cohort of patients with molecularly confirmed choroideremia indicates that certain parameters are not changing significantly with time while others are. The latter warrants a prospective natural history study, ultimately to be considered as outcome measures for interventional clinical trials.
Purpose: Measure and correlate degeneration of the inner segment/outer segment junction (IS/ OS), retinal pigment epithelium (RPE) and choriocapillaris (CC) in Stargardt disease (STGD) Design: Prospective cross-sectional study Methods Setting: Casey Eye Institute Population: 23 patients with STGD Procedures: OCT angiography (OCTA) scans were centered on the fovea. OCT slab projection and en face boundary maps were used to create masks to measure total IS/OS loss or RPE atrophy, as well as regions of isolated IS/OS loss, isolated RPE atrophy, matched IS/OS and RPE degeneration, or intact IS/OS and RPE. CC vascular density (CCVD) was quantified from CC angiogram. Outcome Measures: Area of loss and CCVD for different region types of degeneration were quantified and correlated. Results: The total area of IS/OS loss was strongly correlated with total area of RPE atrophy (r=0.96, p<0.0001) by a ratio of 1.6:1 (r 2 =0.90). CCVD within regions of matched degeneration
Purpose
To demonstrate the clinical utility of optical coherence tomography (OCT) angiography (OCT-A) in inherited retinal dystrophies (IRDs) complicated by choroidal neovascularization (CNV).
Methods
OCT-A and structural OCT were performed using a 70 kHz spectral-domain OCT system employing the split-spectrum amplitude-decorrelation angiography algorithm. Semiautomated image processing software was used to segment and measure the CNV.
Results
Four participants were enrolled to study the following IRDs complicated by CNV: choroideremia, EFEMP1-related retinopathy, Best vitelliform dystrophy, and adult-onset vitelliform dystrophy. Interpretation of fluorescein angiography was difficult due to abnormal retinal architecture but suggested the presence of CNV. Structural OCT revealed subretinal or sub-RPE fibrovascular tissue, within which flow signal was observed on OCT-A. CNV morphology varied from dense capillary networks in active lesions to asymptomatic large caliber loops. Baseline CNV vessel areas ranged from 0.07 to 0.98 mm2. Following treatment with intravitreal bevacizumab, the CNV in choroideremia decreased in vessel area then rebounded, while the one in EFEMP1-related retinopathy remained largely unchanged.
Conclusions
OCT-A enables the morphologic characterization and quantification of CNV in patients with retinal dystrophies despite distorted retinal architecture, can assess response to treatment, and may facilitate the differentiation between active and regressed lesions.
A high index of suspicion is needed to diagnose neuro-ophthalmic paraneoplastic syndromes. There have been recent advances in our understanding of the pathophysiology and treatment of these disorders. This will facilitate early treatment of causative occult tumors and improves the prognosis.
PurposeTo compare ultra-wide-field colour fundus imaging (UWFI) to dilated fundus examination (DFE) for the screening of sickle cell retinopathy (SCR).DesignThis study is a prospective, blinded, multicentre case series.ParticipantsThis study included two groups: an adult group (n=268 eyes) and a paediatric group (n=168 eyes). Sickle cell disease (SCD) types included haemoglobin S homozygous (HbSS), haemoglobin S and C (HbSC) and Hb S with β-thalassaemia (HbSß-Thal).MethodsParticipants underwent DFE and UWFI. Each eye received three independent grades (1–4), documented by three graders: clinical grader, image grader 1 and image grader 2. Three clinically relevant diagnostic thresholds were determined. Based on these thresholds, the sensitivity, specificity, positive predictive value and negative predictive value for all three graders were calculated relative to each other as reference tests.ResultsHbSC was associated with the most advanced SCR grades. When compared to the clinical grader, image grader 1 and image grader 2 consistently detected more SCR and higher SCR grades in both adult and paediatric groups. In both groups, image grader 1 and image grader 2 identified twice as many cases of capillary occlusion/anastomosis than clinical grader. To detect the presence of any proliferative SCR, image grader 1 and image grader 2 had a sensitivity of 82%, 71% in the paediatrics group and 90% and 72% in the adult group. The clinical grader sensitivity was 52% in the paediatrics group and 53% in the adult group.ConclusionThe UWFI is a sensitive tool to screen for SCR. It is superior to DFE in detecting capillary occlusion or anastomosis.
PurposeWe present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis.ObservationsAfter extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration.Conclusions and importancePatients with HVDAS are known to have abnormal visual behavior due to refractive or cortical impairment. However, we present the first description, to our knowledge, of an association with retinal mal-development and degeneration. Thus, patients with HVDAS should be referred for ophthalmic genetics evaluation, and HVDAS should be on the differential diagnosis for young children with global developmental delay who present with nystagmus, rod and cone dysfunction with electronegative waveform, and relative lack of severe structural degeneration on optical coherence tomography.
Our findings conform with the literature that the anatomical development of the macular IRL completes before 5 months of age and hence before the PRL. We also identify 24 months of age as an important developmental milestone for photoreceptors development in the human macula.
Scleral pits are, to the best of our knowledge, a novel optical coherence tomography finding in advanced choroideremia that likely represents the abnormal juxtaposition of penetrating short posterior ciliary arteries with the retina.
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