Relationship Between Cone Loss and Microvasculature Change in Retinitis Pigmentosa.

Purpose: To objectively quantify cone density (CD) and microvascular density (MVD) in normal subjects and patients with moderate or severe retinitis pigmentosa (RP) by adaptive optics (AO) and optical coherence tomography angiography (OCTA) and to evaluate the changes in the parafoveal regions. Method: Thirty-seven eyes from 20 RP patients and 54 eyes from 29 age-matched healthy participants underwent AO fundus and OCTA imaging. AO images covering a 3-mm-diameter area centered on the fovea were subdivided into 5 equidistant concentric rings (C1-C5). An automated algorithm was used to quantify the mean cone density (mCD; cells/mm2). Macular MVDs (%) in the superficial capillary plexus (SCP) and deep capillary plexus (DCP) were assessed by OCTA. Results: In the moderate RP group, CDs in C2 and C3 were each significantly lower than in the normal group (both P < 0.05). In the severe RP group, CDs were significantly lower than in normal eyes in each concentric ring (all P < 0.001; C1-C5). In both RP groups, MVDs were significantly lower than in normal eyes for both the SCP and DCP (both P < 0.05). The mean CD was significantly correlated with the MVD in the DCP (r = 0.43; P = 0.028) but not in the SCP (r = -0.19, P = 0.323). Conclusions: Decreased CD was present in the moderate and severe RP groups. This was accompanied by a decreased MVD in the DCP. Direct assessment of photoreceptors in RP patients by high-resolution imaging technologies is crucial for the future development of RP therapeutics.

Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus.

OBJECTIVES: Infantile nystagmus (IN) is a genetically heterogeneous condition characterised by involuntary rhythmic oscillations of the eyes accompanied by different degrees of vision impairment. Two genes have been identified as mainly causing IN: FRMD7 and GPR143. The aim of our study was to identify the genetic basis of both sporadic IN and X-linked IN. DESIGN: Prospective analysis. PATIENTS: Twenty Chinese patients, including 15 sporadic IN cases and 5 from X-linked IN families, were recruited and underwent molecular genetic analysis. We first performed PCR-based DNA sequencing of the entire coding region and the splice junctions of the FRMD7 and GPR143 genes in participants. Mutational analysis and co-segregation confirmation were then performed. SETTING: All clinical examinations and genetic experiments were performed in the Eye Hospital of Wenzhou Medical University. RESULTS: Two mutations in the FRMD7 gene, including one novel nonsense mutation (c.1090C>T, p.Q364X) and one reported missense mutation (c.781C>G, p.R261G), were identified in two of the five (40%) X-linked IN families. However, none of putative mutations were identified in FRMD7 or GPR143 in any of the sporadic cases. CONCLUSIONS: The results suggest that mutations in FRMD7 appeared to be the major genetic cause of X-linked IN, but not of sporadic IN. Our findings provide further insights into FRMD7 mutations, which could be helpful for future genetic diagnosis and genetic counselling of Chinese patients with nystagmus.