Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated genes in 1352 patients diagnosed with iMDs. Within this cohort, 39.8% of patients were considered genetically explained by 460 different variants in 49 distinct genes of which 73 were novel variants, with some affecting splicing. The top five most frequent causative genes were ABCA4 (37.2%), PRPH2 (6.7%), CDHR1 (6.1%), PROM1 (4.3%) and RP1L1 (3.1%). Interestingly, variants with incomplete penetrance were revealed in almost one-third of patients considered solved (28.1%), and therefore, a proportion of patients may not be explained solely by the variants reported. This includes eight previously reported variants with incomplete penetrance in addition to CDHR1:c.783G>A and CNGB3:c.1208G>A. Notably, segregation analysis was not routinely performed for variant phasing-a limitation, which may also impact the overall diagnostic yield. The relatively high proportion of probands without any putative causal variant (60.2%) highlights the need to explore variants with incomplete penetrance, the potential modifiers of disease and the genetic overlap between iMDs and age-related macular degeneration. Our results provide valuable insights into the genetic landscape of iMDs and warrant future exploration to determine the involvement of other maculopathy genes.

Macular dystrophies are a group of individually rare but collectively common inherited retinal dystrophies characterised by central vision loss and loss of visual acuity. Single molecule Molecular Inversion Probes (smMIPs) have proved effective in identifying genetic variants causing macular dystrophy. Here, a previously established smMIPs panel tailored for genes associated with macular diseases has been used to examine 57 UK macular dystrophy cases, achieving a high solve rate of 63.2% (36/57). Among 27 bi-allelic STGD1 cases, only three novel ABCA4 variants were identified, illustrating that the majority of ABCA4 variants in Caucasian STGD1 cases are currently known. We examined cases with ABCA4-associated disease in detail, comparing our results with a previously reported variant grading system, and found this model to be accurate and clinically useful. In this study, we showed that ABCA4-associated disease could be distinguished from other forms of macular dystrophy based on clinical evaluation in the majority of cases (34/36).

UNASSIGNED: To present a novel smartphone-based application (GDRS-test, Greek Digital Reading Speed - test) for the assessment of reading speed, to evaluate, whether this test could be easily and reliably used by patients with visual impairment and normal individuals serving as an adjunctive tool for their visual examination.
UNASSIGNED: One hundred and five visually impaired and 32 normal eyes were examined. Depending on existing active ocular pathology, patients were divided into a non-macular and a macular group, We examined the reading performance for continuous text (MNREAD chart) and random unrelated words of the new smartphone-based reading speed app, monocularly. The patients\' best-corrected visual acuity ranged from 1.3 to 0.2 logMAR. Examinees were asked to read aloud (at a 40 cm distance) a series of 30 random two-syllable and then 30 three-syllable Greek words, without semantic connection. Reading speed was measured as correct words per minute for critical print size. The individuals were examined twice within 2 weeks for test-retest reliability. Correlations and comparisons concerning each group adjusted for age and visual acuity were performed.
UNASSIGNED: There was moderate correlation between MNREAD and 2SYL SPEED (Reading speed for 2-syllable) (Pearson\'s rho = 0.589, p < 0.001) and 3SYL SPEED (Reading speed for 3-syllable) (Pearson\'s rho = 0.617, p < 0.001) for healthy individuals. The mean 2SYL SPEED and 3SYL SPEED for Individuals of the maculopathies group or non-maculopathies group were significantly lower compared to normal individuals adjusted for age and visual acuity [B (95% CI): -93.077 (-104.165, -81.98), p < 0.001] and [B (95% CI): -92.254 (-104.196, -80.312), p < 0.001], respectively. The test-retest analysis showed a good agreement for patients and healthy individuals.
UNASSIGNED: The novel-reading speed application for the Greek-speaking population was found to accurately detect differences between patients with visual impairment and healthy individuals. It was designed and constructed with the intention to ease and improve the ophthalmic examination allowing individuals to self-evaluate reading speed by transmitting the result to their physician.

OBJECTIVE: A reliable reading test provides a standardized measure of the visual component of reading performance. This study evaluated reproducibility, agreement and feasibility of five Dutch language continuous text reading tests used in clinical practice and research in visually impaired participants.
METHODS: In 42 participants with macular pathologies (mean age 77 years), the Colenbrander Reading Card (Colenbrander), International Reading Speed Texts (IReST), Laboratory of Experimental Ophthalmology (LEO) charts, \'de Nederlanders\' (NED) and the Radner Reading Charts (Radner) were evaluated. The coefficient of repeatability was calculated for different reading parameters, and agreement between the reading tests was determined.
RESULTS: Between the reading tests, the differences found in repeatability for reading performance were mainly within the limit of one line (0.1 logMAR). Exceptions were the inter-session repeatability for critical print size: Colenbrander (0.35 logMAR), LEO (0.34), Radner (0.23). The highest agreement was found between the LEO and Radner; Reading acuity bias 0.03 logMAR (SD 0.10), CPS 0.03 (0.12).
CONCLUSIONS: This study shows that reading performance results obtained with reading tests are not always reliable and reading parameters could not always be properly assessed in participants with maculopathies. Therefore, choices regarding which reading test to use especially for research purposes should be based on both the feasibility and reliability of the reading test. The NED (a historical test) was the least feasible, and it is recommend that this test is no longer used. To allow standardized and comparable analysis of reading performance a highly standardized reading test, like the Radner is recommended.

OBJECTIVE: Describe the ocular findings of a case series of 8 patients with a diagnosis of dengue.
METHODS: Review of clinical records and interviews with patients during outpatient visits, after informed consent was obtained and following the ethical standards of the Helsinki declaration. The patients were diagnosed with diagnosis by IgM / IgG dengue serology in whom ocular involvement was identified, between January and October 2017 in Retinal-vascular clinic of the \"Dr. Rodolfo Robles Valverde Hospital\", Guatemala.
RESULTS: The 8 patients, 5 men and 3 women from rural areas in Guatemala, were diagnosed with dengue by IgM / IgG serology with associated ocular involvement. The mean age was 32.3 years, with the oldest being 45 years old and the youngest being 20 years old. The ocular manifestations identified were, 4 neuroretinitis, 3 venous obstructions, 3 maculopathies, 2 serous detachments, 1 episcleritis, and 1 vasculitis. Two patients developed optic atrophy after resolving the neuroretinitis, and 1 developed peri-foveal scarring after the maculopathy. The ocular involvement was resolved in all patients after treatment, with an improvement in visual acuity, although in some cases damage to the visual field developed as a sequela of neuroretinitis.
CONCLUSIONS: It is necessary to consider dengue as an important differential diagnosis in an endemic country such as Guatemala. There are a large number of ocular manifestations due to direct involvement, as well as by an immune system reaction, and thus avoid considering the different ocular manifestations as idiopathic, or due to a different condition.