Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.

PURPOSE: We report a special case of a patient who presented with two rare genetic diseases, Turner syndrome and cone-rod dystrophy (CRD), caused by mutation in the ABCA4 gene. METHODS: We present a case of a 12-year-old female with a progressive visual loss, poor night vision and short stature. We performed a clinical, karyotype of peripheral blood and molecular genetic study. DNA sample from the index patient was subjected to whole exome sequencing. Variants localized in homozygous regions were validated by Sanger sequencing. RESULTS: Fundus examination presented CRD phenotype and the general examination revealed short stature, aortic coarctation and infantile uterus, without visible ovaries on pelvic ultrasound. The karyotype of peripheral blood showed monosomy 45,X. We identified a known homozygous deletion c.[885delC];[885delC] in ABCA4, resulting in a frameshift at the position p.[L296Cfs*4];[ L296Cfs*4] . In addition, mutations in RPGR and ORF15 were excluded. CONCLUSIONS: Several ocular disorders are known to be associated with Turner syndrome, however, in this case, we hypothesize that CRD is not related to Turner syndrome but may be a manifestation of the lack of a normal X chromosome with ABCA4 mutation.

Multimodal Imaging in Retinitis Pigmentosa: Correlations among Microvascular Changes, Macular Function and Retinal Structure.

PURPOSE: To analyze microvascular changes in patients with retinitis pigmentosa (RP) with relatively preserved visual acuity (VA), using swept source optical coherence tomography (SS-OCT) angiography to correlate results to macular function and structure. METHODS: This was a case-control study conducted over 70 eyes of 35 RP patients with relatively preserved VA. All patients underwent a complete ophthalmic examination, including SS-OCT, OCT angiography (OCT-A), fundus autofluorescence (FAF), and multifocal electroretinogram (mfERG). Thirty-four eyes of 34 healthy controls of age-, sex-, and axial length-matched (control group), were also analyzed. The main outcome measures were foveal and parafoveal vascular densities (FVDs and PFVDs) in the superficial capillary plexus (SCP) and deep capillary plexus (DCP), foveal avascular zone (FAZ) and its enlargement coefficient and their correlation with macular function (by means of VA and mfERG), and structure (by means of FAF and SS-OCT). RESULTS: In the RP group, PFVD was 25.99 ± 5.2% in the SCP and 34.47 ± 2.37% in the DCP and were significantly lower as compared to control group (P < 0.0001; P = 0.0026, respectively). Enlargement coefficient of FAZ was 1.78 ± 0.79. We found a statistically significant correlation between VA and PFVD in the DCP (P < 0.0001), FAZ disruption in the SCP (P = 0.006) and enlargement coefficient of FAZ (P = 0.01). The parafoveal DCP density was significantly correlated with P1 amplitude (P = 0.005) in rings 2, 3, 4, and 5 of the mfERG. We found a statistically significant correlation between parafoveal density in the DCP, thickness of ganglion cell complex (GCC) (P = 0.001), and the width of ellipsoid band (P = 0.041). Parafoveal SCP density was also correlated to GCC (P = 0.033). CONCLUSIONS: We showed that vascular alteration in RP begins at the level of the DCP, which affects the outer retina and leads to a narrowing of the ellipsoid. The alteration of the SCP would occur later in the evolution of the disease. Vascular changes occur early during RP and were highly correlated to retinal function and structure. OCT-A seems to be a good tool to quantify vascular network loss and could play a central role in staging, prognosis, and monitoring disease progression.

Posterior staphylomas in non-highly myopic eyes with retinitis pigmentosa.

PURPOSE: Our aim was to highlight the presence and the frequency of posterior staphyloma (PS) in non-highly myopic retinitis pigmentosa (RP) patients and to study the relationship between PS and choroidal thickness (CT). METHODS: This was a retrospective case-control study of 77 eyes (39 patients) with RP, axial length inferior to 26 mm and clinically preserved macular area. All patients underwent fundus photography, A- and B-scan ocular ultrasonography, fundus autofluorescence (FAF) and swept source optical coherence tomography (SS-OCT). PS was defined by an outward bowing of the sclera on SS-OCT and B-scans. The relationship between the PS and SS-OCT layers thicknesses was determined. RESULTS: Over 77 RP eyes of 39 patients studied, a PS was identified in 17 eyes (22%) of nine patients. Fifteen eyes had a narrow macular staphyloma (NMS), and two eyes had a wide macular staphyloma (WMS). Mean age in this group was 34.2 years (range 19-53 years), mean axial length was 23.60 ± 0.61 mm and mean CT was 185.7 ± 71 um versus 259.7 um in eyes without PS. The staphyloma edges corresponded to area of outer retina loss on SS-OCT and were larger than the hyperautofluorescent ring on FAF. We found a significant association between PS and CT in our RP patients (p = 0.003). The mean CT was significantly thinner in PS eyes compared to eyes without staphyloma. There was no significant association between PS and with visual acuity, years of progression, retinal thickness nor FAF findings. CONCLUSIONS: PS was present in 22% of non-highly myopic eyes with RP. Narrow macular staphyloma was the most common type observed in our series. A marked thinning of the choroid was noted in PS eyes when compared to RP eyes without PS, as well as the outer retina degeneration.

Valsalva retinopathy occurring after general anesthesia.

PURPOSE: To report a case of patient who presented with valsalva retinopathy after genral anesthesia for the treatment of ruptured intracranial aneurysm. OBSERVATION: A forty year-old man presented, after a general anesthesia for treatment of a ruptured intracranial aneurysm, with a severe decrease of the visual acuity in the left eye. Ophthalmic examination, performed one month after surgery showed a retrohyaloid macular hemorhage. After failure of laser Nd-YAG hyaloidotomy, vitrectomy allowed drainage of the hematoma with good visual outcome. CONCLUSION: Valsalva retinopathy is a rare complication that can occur after genral anesthesia. Vitrectomy may be needed if Nd-Yag laser hyaloidotomy fails.

Epidemiologic study of myopia in a population of schoolchildren in Tunisia.

BACKGROUND: Uncorrected refractive error has recently been identified as the leading cause of visual impairment in children worldwide. The prevalence of myopia is increasing. Determination of the epidemiology of myopia is important to develop screening strategy. PURPOSE: to estimate the prevalence and the degree of severity of myopia among primary schoolchildren in Tunisia and to assess its effect on school performance. METHODS: A random cluster design was used to recruit children from primary schools across urban and rural settings in Tunisia, during 2009 to 2012. A total of 6192 students aged 6 to 14 years old were enrolled. Students with visual acuity of 9/10 or worse underwent a complete ophthalmic examination, and cycloplegic autorefraction was used to determine refractive error. Myopia was defined as a spherical equivalent (SE) of - 0.50 dioptre (D) or worse. We also searched for a possible relation between uncorrected myopia and academic failure. RESULTS: The prevalence of myopia was 3.71%. Mean and SD of spherical equivalent was -3,10 ± 0,86 D. The myopia rate increased significantly with age (p=0.04), but was not significantly related to gender (p=0.823). There was no significant association between the student's area of residence and myopia (p=0.932). 85.21% of myopic students experienced unsatisfactory academic performances. CONCLUSION: The present study reveals the prevalence of myopia among schoolchildren in Tunisia. The high rate of academic failure in myopic schoolchildren emphasizes an unmet need for its screening and its correction.

Characteristics of Astigmatism in a Population of Tunisian School-Children.

PURPOSE: To evaluate the characteristics of astigmatism in a cross-sectional study of schoolchildren in Tunisia. MATERIALS AND METHODS: A random cluster design was used to recruit children from primary schools across urban and rural settings in Tunisia, from 2008 to 2010. A total of 6192 students aged 6-14-years old were enrolled. All students whose uncorrected visual acuity was worse than 20/20 underwent a complete ophthalmic examination. Astigmatism was defined as the cylinder power of 0.75 diopter (D) or greater. RESULTS: The prevalence of astigmatism was 6.67%. Mean cylinder power was - 1.89 ± 0.79D. The prevalence of astigmatism increased statistically significantly with age (P = 0.032). The prevalence of astigmatism was not significantly related to gender (P = 0.051). Of those with cylinder, 63.6%, 17.8%, and 18.6% schoolchildren had with with-the-rule, against-the-rule, and oblique astigmatism, respectively. ATR astigmatism was significantly higher in males (P = 0.033). There was no significant association between the student's area of residence and astigmatism (P = 0.059). CONCLUSION: Comparisons with other studies show that the prevalence of astigmatism in Tunisia is higher than in some countries. The prevalence of astigmatism increased with age but not gender. The majority of schoolchildren had with-the-rule astigmatism.

Herpes zoster ophthalmicus associated with abducens palsy.

The extraocular muscle palsies associated with herpes zoster ophthalmicus (HZO) are transient, self-limiting conditions, usually seen in elderly patients. There are different treatment recommendations for paralytic complications, but prognosis has generally reported to be favorable. A 75-year-old male patient presented with diplopia. Clinical history revealed left facial vesicular eruptions and pain treated by oral aciclovir 1 week following symptom onset. On examination, we observed cicatricial lesions with crusts involving left hemiface, a limitation in abduction of the left eye, and a superficial punctuate keratitis (SPK) with decreased visual acuity (4/10). Examination of the right eye was unremarkable. Hess screen test confirmed left six nerve palsy.

[Epidemiologic study of hyperopia in schoolchildren in Tunisia]. / Profit épidémiologique de l'hypermétropie en milieu scolaire primaire en Tunise: à propos de 6192 enfants.

AIM: To study the epidemiological profile and the degree of severity of hyperopia in Tunisia primary school and to assess its effect on school performance. METHODS: A cross-sectional, descriptive survey was conducted among 6-14 aged Tunisian children attending primary urban and rural schools. A total of 6192 children were selected using stratified random cluster sampling. Cycloplegic refractive error was measured among all children with uncorrected visual acuity less than 9/10 or signs of astheniopia. Hyperopia was defined as spherical equivalent (SE) 2.0 diopters (D). We have also searched a possible relation between degree of severity of hyperopia and school performance. RESULTS: The prevalence of hyperopia was 2.61%. The spherical equivalent mean was + 3.73 ± 0.94 D. The mean age was 9.67 ± 0.44 years. This prevalence was 2.77% in boys and 2.47% in girls. 3.13% of students were living in urban areas and 1.42% in rural areas. The hyperopia rate decreased significantly with age (p = 0.021), but it was not significantly related to gender (p=0.54). The difference in the prevalence of hyperopia between urban and rural areas was not statistically significant (p = 0.067). There was no significant association between the degree of severity of hyperopia and school performance (p=0.41). CONCLUSION: In our study, the prevalence of hyperopia among schoolage children in Tunisia was 2.61%.The identification of this refractive error and its correction as soon as possible would ensure these children better visual comfort and a better education.

Intravitreal bevacizumab for the treatment of choroidal neovascularization secondary to angioid streaks: one year of follow-up.

PURPOSE: To evaluate the efficacy and safety of intravitreal bevacizumab at one year follow-up, for the treatment of choroidal neovascularization (CNV) associated with angioid streaks. METHODS: A retrospective case series of eighteen eyes of 17 patients with CNV secondary to angioid streaks treated with intravitreal bevacizumab between October 2006 and May 2008. Ophthalmic evaluation including best corrected visual acuity (BCVA), slit lamp biomicroscopic examination, optical coherence tomography (OCT) and fluorescein angiography, was performed before and after treatment. Retreatment was given every 4-6 weeks in case of persistent symptoms or CNV activity on OCT. Main outcome measures were changes in BCVA and central retinal thickness on OCT. RESULTS: The mean number of injections was 4.8 at 1 year. Twelve eyes (66.6%) received five injections or more. The mean BCVA at baseline was 20/80 (range 20/400 to 20/32) and improved to 20/44 (range 20/160 to 20/20) at 1 year (p = 0.014). The BCVA improved by three or more lines in eleven eyes (61.11%) and remained within two lines of baseline in seven eyes (38.8%). Mean central retinal thickness was 404.2 µm (range 160-602 µm) at baseline and decreased to 300.5 µm (range 150-523 µm) at 1 year (p = 0.022). No ocular or systemic complications were noted. CONCLUSION: The 1-year outcomes suggest intravitreal bevacizumab to be a promising treatment for CNV associated with angioid streaks, resulting in both functional and anatomical improvements. Repeated injections are needed to maintain these results. Further long term studies are required to confirm these findings.