Background and Objective: This study aims to investigate the prevalence of systemic and ophthalmic manifestations in different refractive groups in children and young adults with Down syndrome (DS). Materials and Methods: The study was a population-based, cross-sectional study that included 141 Caucasian children and young adults with DS. They were classified into the following three groups: myopia DS group (37 subjects, mean age 15.8 years), emmetropia DS group (41 subjects, mean age 11.7 years) and hyperopia DS group (63 subjects, mean age 10.9 years). The participants underwent inspection, slit-lamp examination, cycloplegic refraction, ocular alignment and ocular motility examination. Ten systemic manifestations were analyzed. Results: There was no difference in the prevalence of any systemic manifestations between the groups. Considering the ophthalmic manifestations, there was statistical difference in the distribution of proportions among the three groups for nystagmus (p = 0.011), iris-stromal atrophy (p = 0.048) and strabismus (p = 0.031). The prevalence of strabismus in our DS myopia group was 35.1%, and in DS hyperopia group 38.1%. Conclusions: The results of our study suggest that DS children and young adults with any refractive error do not have a higher chance of additional systemic manifestations. Myopia in DS was associated with a higher prevalence of nystagmus and iris stromal atrophy, whereas astigmatism was found to be more frequent in hyperopia.

Hereditary spastic paraplegia 15 (HSP15) is a rare genetic disease manifesting with progressive muscle spasticity and paralysis of the lower limbs (paraplegia) caused by mutations in the ZFYVE26 gene. When spastic paraplegia is accompanied by retinal degeneration and cognitive impairment, it is known as Kjellin syndrome. We report on ocular manifestations in a case with HSP15 and Kjellin syndrome. We follow a 26-year-old male patient with HSP15 for 6 years. His condition was confirmed by clinical exome sequencing. In addition to regular systemic follow-ups, we performed ophthalmic examinations that included best corrected visual acuity, color vision testing, stereo acuity, visual fields, fundus photography, fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, and corneal topography. Genetic testing in the patient revealed homozygosity for the pathogenic variant c.2114dupC; p. (Glu706Ter) in the ZFYVE26. Although the variant is present in population databases and ClinVar, this is the first report of this variant in HSP15 affected patient. During follow-up the patient's visual acuity declined. Ocular fundus findings comprised of slowly progressive retinal degeneration and a novel ocular phenotype in HSP15 - keratoconus. Corneal topography showed corneal thinning (thinnest location OD: 524 µm OS: 490 µm). Keratoconus was classified as RE: A1B2C0D1, LE: A3B4C1D3 according to Belin Keratoconus Staging System. We describe the clinical and ocular manifestations of a patient with HSP15 and Kjellin syndrome who was diagnosed with a pathogenic variant of ZFYVE26 gene. The patient developed keratoconus that to our knowledge is a novel ophthalmic phenotype in HSP15.

Aim: To investigate the prevalence of strabismus by age groups in Caucasian Macedonian population. Methods: A study population of 1900 patients (aged 0-86 years) from the capital city, Skopje, Macedonia, were analysed in a secondary health institution in the central urban area. Ophthalmological examination included: visual acuity, slit- lamp biomicroscopy, autorefraction, and ocular motility examination. Results: In our retrospective cohort (1900), 60 patients did have strabismus (3.2%). The highest prevalence of strabismus was in primary school children (10-14 years- 20.2 %; 0-4 years- 16.2 %; 15-19 years- 11.8% and 5-9 years- 8.6%). Our adult population showed results similar to Caucasian Danish population with prevalence of strabismus of 0.7% (age group 50-54 years) and 0.8 % (age group 55-59). The most frequently identified subtype was esotropia (73.3%), followed by exotropia (23.4%) and cyclovertical strabismus (3.3 %). Conclusion: The overall prevalence of strabismus on Macedonian cohort was 3.2%. Our results on primary school children are much higher than other studies on Caucasian and Asian population, but similar to prevalence in the population in Saudi Arabia. The most prevalent type of strabismus was esotropia (73.3%). Regarding gender distribution, both esotropia and exotropia were more frequent in males.

AIM: Intermittent exotropia (IXT) is the most common form of exodeviations. The aim of our study was to investigate the outcome after overminus lens therapy in children and young adults with IXT. METHODS: Fifty-three children and young adults with IXT, aged 3–33 years, from Macedonia, underwent slit-lamp examination, ocular motility, and refraction. For assessing near control in children and young adults with IXT, we used an office-based Mayo Scale. RESULTS: Most of the patients had Mayo score 1 (30.2%) and Mayo score 2 (26.4%). A Mayo score of 3 was presented in 18.9% of the patients, and Mayo score of 0 in 15.1%. A Mayo score of 4 was presented in 5.7%, and Mayo scored only in 3.8% of the IXT patients. After prescribing overminus glasses, 43.4% of the IXT patients showed better outcomes with better punctum proximum convergence and/or, better stereoacuity, and/or smaller near angle of deviation (in pdp). 52.8% same motility and sensory outcome was observed, whereas only in 3.8% worse findings were reported. CONCLUSIONS: Our study group was with a mean age over 5 (10.2 years) and we used lower overminus therapy (add. −0.75 D). The following studies of overminus lens therapy on IXT children and young adults over 5 years of age, should confirm our findings of a high percentage of improvement in terms of Mayo near control assessment.

AIM: In our case–control study of the Caucasian Macedonian myopia population of adults aged over 40 years, to analyze the environmental risk factors such as education level and outdoor activity levels in hours. MATERIALS AND METHODS: We included 53 patients with myopia and 64 control subjects. The following demographic characteristics were evaluated using questionnaires: Age, gender, level of education, outdoor activities (hours), and parental myopia. Ophthalmic examination was performed with slit-lamp biomicroscopy and parameters: best corrected visual acuity, cycloplegic autorefraction, and corneal curvature radius were recorded. RESULTS: About 54.7% of the myopia study population were male, and most of the subjects had high education (58.5%). About 43.4% of the myopia subjects did have parental myopia in the family history. The mean age of onset of myopia was 22.5 years, and the mean age when myopia stopped was 37.1 years. The mean value of near tasks (screen time, reading, etc.) time in hours, in the myopia group was 5.6, whereas in the emmetropia group 4.9. The mean value of outdoor activity in hours per day (prior 26 years of age, recent years, and today) was: 5.1 h, 4.2 h, 3.9 h in the myopia group versus 4.8 h, 3.8 h, 3.3 h in the emmetropia group, respectively. CONCLUSION: The prevalence of male gender in myopia group was higher. Near task time in hours was higher in myopia group versus emmetropia group. Parental history of myopia was significantly more present in patients with myopia. Environmental risk factors such as outdoor activities in hours and level of education did not differ significantly among the groups.

Aim: To study the effect of unilaterally applied timolol 0.5% on systemic blood pressure (BP), heart rate (HR), cerebrospinal fluid pressure (CSFP), intraocular pressure (IOP), ocular perfusion pressure (OPP) and translaminar pressure difference (TLPD). Methods: This is an experimental clinical study of 14 healthy subjects. Ophthalmic examination included best corrected visual acuity (BCVA), slit lamp examination and autorefractometry. Systemic BP, HR and IOP were taken after the basic examination. Two drops of ophthalmic solution timolol 0.5% were instilled in the right eye (RE) of the subjects. Systemic BP and IOP were measured 30 minutes, one hour, one and a half hour and two hours after the local application. We evaluated the following parameters: systolic blood pressure (SBP) (mmHg), diastolic blood pressure (DBP) (mmHg), mean blood pressure (MBP) (mmHg), HR (bpm), estimated CSFP, IOP (mmHg), estimated TLPD (mmHg) and (OPP) (mmHg). Results: After unilateral topical application of timolol 0.5%, there was a significant reduction of IOP and TLPD in both eyes (IOP RE p<0.001, IOP LE p=0.006; TLPD RE p<0.001, TLPD LE p=0.006) and a significant decrease of HR (p=0.003). OPP significantly increased only in the treated eye (p=0.021). There was a statistically significant correlation between IOP and HR in both eyes (RE R=0.95, p=0.01; LE R=0.85, p=0.04). Conclusion: Unilateral application of timolol 0.5% significantly reduced IOP and TLPD in both treated and untreated eyes, but OPP significantly increased only in the treated eye. HR decreased after unilateral application of timolol 0.5% and was significantly associated with IOP reduction.