Ocular Abnormalities In Patients Research Articles

Schizophrenia and Orthoptic Conditions: A Literature Review.

A narrative review of the literature reporting ocular abnormalities in patients with schizophrenia was undertaken to determine the types and prevalence of orthoptic conditions in this patient cohort. A systematic search of multiple databases yielded 1,974 studies published between January 1992 and January 2022. All were screened for relevance based on their title and abstract. Seventeen studies were included in the final review. Ocular abnormalities reported in schizophrenia included a high incidence of strabismus, reduced visual acuity and reduced stereopsis compared to controls. Additionally, eye movement abnormalities (including reduced smooth pursuit gain and increased prosaccade latency) were frequently reported. Reduced visual acuity was associated with negative symptoms and reduced quality of life in schizophrenia. Orthoptists and eye care professionals should be aware that a higher incidence of strabismus, reduced visual acuity, reduced stereoacuity, and eye movement abnormalities are reported in patients with schizophrenia. Further research is required to determine whether, or to what extent, ocular abnormalities and visual disturbances influence or exacerbate the symptoms of schizophrenia, and whether there is an effect of schizophrenia medication on these orthoptic conditions.

Burden of ocular abnormalities in patients with beta thalassaemia: a cross-sectional study

IntroductionIn Pakistan, the reported carrier rate of thalassaemia is estimated to be 5%–8% with 5000 new patients diagnosed every year. Several known systemic complications of beta thalassaemia major have been...

Ocular Phenotypes in Patients With Hemophagocytic Lymphohistiocytosis: A Retrospective Analysis in a Single Center Over 7 Years

To investigate the presence and type of ocular abnormalities in patients with hemophagocytic lymphohistiocytosis (HLH). A retrospective cross-sectional study. Observational report of ocular findings and their associations with age, sex, underlying disease, and hematologic parameters. HLH was defined according to the 2004 criteria, and the patients were enrolled from March 2013 to December 2021. Analysis began in July 2022 and ended in January 2023. The main outcome measures were ocular abnormalities associated with HLH and their potential risk factors. Of 1525 HLH patients, 341 had ocular examinations, and 133 (133 of 341, 39.00%) had ocular abnormalities. Mean age at presentation was 30.21 ± 14.42 years. The multivariate analysis indicated that old age, autoimmune disorders, decreasing red blood cell count, decreasing platelet count, and increasing fibrinogen level were independent risk factors of ocular involvement in HLH patients. The most common presenting ocular findings were posterior segment abnormalities (66 patients, 49.62%), including retinal and vitreous hemorrhage, serous retinal detachment, cytomegalovirus retinitis, and optic disc swelling. Other HLH-associated ocular abnormalities included ocular surface infection (conjunctivitis, 34 patients, 25.56%; keratitis, 16 patients, 12.03%), subconjunctival hemorrhage (11 patients, 8.27%), chemosis (5 patients, 3.76%), anterior uveitis (11 patients, 8.27%), glucocorticoid-induced glaucoma (5 patients, 3.76%), radiation cataract (1 patient, 0.75%), dacryoadenitis (2 patients, 1.50%), dacryocystitis (1 patients, 0.75%), orbital cellulitis (2 patients, 1.50%), orbital pseudotumor (2 patients, 1.50%), and strabismus (2 patients, 1.50%). Eye involvement is not uncommon in HLH. Better awareness among both ophthalmologists and hematologists is necessary for prompt diagnosis and institution of appropriate management strategies with potential to save sight and life.

Ocular Manifestations and Potential Treatments of Alport Syndrome: A Systematic Review.

Objectives Alport syndrome (AS) is a severe, rare hereditary disorder that can lead to end-stage renal disease, auditory degeneration, and ocular abnormalities. Despite extensive research on AS in relation to auditory and renal disorders, more research is needed on the ocular presentations of AS. This systematic review aims to summarize the common ocular abnormalities in patients with AS and to explore the potential treatment options for these irregularities. Methods The PubMed, MEDLINE, and EMBASE databases were systematically searched from January 1977 to April 2022. Only papers that were published in the English language and explored the ocular abnormalities in AS patients were selected. We manually searched reference lists of included papers for additional studies. Results A total of 23 articles involving 195 patients were included in this review. The common ocular manifestations in AS patients are lenticonus, macular holes, fleck retinopathy, and thinning of the macula. Although published literature has described the use of cataract surgeries and vitrectomies as standard surgical techniques to alleviate ocular abnormalities in non-AS patients, it must be noted that surgical techniques have not been evaluated in a large research study as a solution for AS abnormalities. Another prospective treatment for AS is gene therapy through the reversion of causative COL4 variants to wild type or exon-skipping therapy for X-linked AS with COL4A5 truncating mutations. Gene therapy, however, remains unable to treat alterations that occur in the fetal and early development phase of the disease. Conclusions The review found no definitive conclusions regarding the efficacy and safety of surgical techniques and gene therapy in AS patients. Recognition of ocular abnormalities through an ophthalmic examination with an optical coherence tomography (OCT) and slit-lamp examination is critical to the medical field, as ophthalmologists can aid nephrologists and other physicians in diagnosing AS. Early diagnosis and care can minimize the risk of detrimental ocular outcomes, such as blindness and retinal detachment.

Ocular findings in patients with vitiligo: A single-center experience

We sought to evaluate ocular abnormalities in patients with nonsegmental vitiligo. This was a case-control study in which patients with vitiligo were evaluated in terms of ocular findings. Vitiligo patients were classified into acrofacial and generalized groups. Duration and periocular involvement of the vitiligo were recorded. Vitiligo Area Scoring Index (VASI) and Vitiligo Disease Activity Score (VIDA) were calculated. All patients and control subjects underwent uncorrected and corrected visual acuity, keratometry, central corneal thickness, Schirmer's testing, tear film break-up time (TBUT), intraocular pressure, biomicroscopic examination, and anterior segment tomography. A total of 244 subjects (130 vitiligo and 114 controls) were included in the study. Most of the vitiligo patients (87.7%) had vitiligo vulgaris. One-third of all vitiligo patients had periocular involvement. Fundus hypopigmentation was found in 42.6% of the vitiligo patients. Thirty-five vitiligo patients (27.3%) and 23 vitiligo patients (18%) had moderately severe and very severe dry eyes, respectively. Based on TBUT, 48 vitiligo patients (44.4%) had a poor tear film. Median scores on Schirmer's testing were 5mm in vitiligo patients with periocular involvement and 11mm in vitiligo patients without periocular involvement (P<0.001). Mean intraocular pressure was 14.4±3.2mmHg in vitiligo patients and was no different from that of the control subjects. Six patients (4.6%) had increased IOP. None of the control subjects had increased IOP. Corneal keratometry showed a significantly higher vertical measurement in vitiligo patients. Astigmatism was significantly higher and peripheral iris atrophy was significantly more frequent in vitiligo patients compared to controls. Periocular involvement was associated with an increased risk of dry eye in vitiligo patients.

Ocular Abnormalities in Patients with Vitiligo: A Systematic Review and Meta-Analysis

Background: Vitiligo is a skin depigmentation disorder that results from the autoimmune destruction of cutaneous melanocytes. Several ocular abnormalities, including uveitis, dry eye, glaucoma, and retinal diseases, have been reported in patients with vitiligo. The aim of our study was to investigate the association of ocular abnormalities with vitiligo. Methods: This meta-analysis was registered in PROSPERO (CRD42021224167) and adhered to MOOSE checklist and PRISMA guidance for all processes. PubMed, Embase, Web of Science, and Cochrane databases were searched for studies examining the association between ocular abnormalities and vitiligo from inception to December 10, 2020. Studies recruiting patients with Sjogren’s syndrome or Vogt-Koyanagi-Harada syndrome were excluded. The primary outcomes were the Schirmer test, tear film break-up time (TBUT), and ocular surface disease index (OSDI) of vitiligo patients compared to the controls. The risk of bias of the selected studies was assessed using the Newcastle-Ottawa Scale (NOS) of case-control studies. Results: This meta-analysis of 16 case-control studies showed that patients with vitiligo had significantly lower Schirmer test values (mean difference [MD], −1.65; 95% CI, −2.81 to −0.49), shorter TBUTs (MD, −4.66; 95% CI, −7.05 to −2.26), higher ocular surface disease indices (MD, 18.02; 95% CI, 5.7–30.35), and thinner subfoveal choroidal thicknesses (MD, −53.10; 95% CI, −69.84 to −36.36). No significant differences were found in the prevalence of glaucoma and the level of intraocular pressure. Conclusions: Our study supports an association between dry eye and thinner subfoveal choroidal thickness in patients with vitiligo. Dermatologists should be aware of these possible comorbidities and refer vitiligo patients with ocular symptoms to ophthalmologists for further management.

Ocular and auditory abnormalities in patients with vitiligo: a case-control study.

Vitiligo is characterized by the destruction of functional melanocytes in the skin. This destruction can target melanocytes anywhere in the body, in turn affecting the function of the organs in which the affected melanocytes reside. Melanocytes in the skin, uveal tract and ear are similar in their physiology and morphology, and share a common embryological origin. To study the association of vitiligo with ocular and auditory abnormalities. This case-control study was carried out on 40 patients with vitiligo and 20 healthy controls (HCs). All patients and HCs underwent auditory examination (otoscopic examination and immittance audiometry to assess middle ear pressure and exclude tympanic membrane perforation; pure tone audiometry to assess peripheral hearing sensitivity; and transient evoked otoacoustic emissions to assess central hearing ability) and standard ocular examination including visual acuity test, slit lamp biomicroscopy and optical coherence tomography. Compared with controls, there was a significantly higher prevalence of hearing loss and ocular abnormalities in patients with vitiligo but no significant difference in visual acuity. Vitiligo is a systemic disease that can be associated with impairment of melanocyte function organs other than the skin, including the eyes and ears. The function of auditory melanocytes is related to the hearing process and thus their destruction could lead to hearing impairment. By contrast, ocular melanocytes do not play a direct role in detection or transfer of visual information, and thus should not affect vision. Vitiligo may be associated with ocular abnormalities and hearing loss.

Retinal and Choroidal Thickness in relation to C-Reactive Protein on Swept-Source Optical Coherence Tomography.

Purpose To evaluate the relationships between C-reactive protein (CRP) and retinal and choroidal thickness by swept-source optical coherence tomography (SS-OCT). Methods The participants included in the prospective cross-sectional study underwent a comprehensive ophthalmic examination. Based on the CRP values, the subjects were divided into the CRP (+) group (CRP ≥ 8.2 mg/L) and the CRP (−) group (CRP < 8.2 mg/L). The retinal and choroidal thickness was compared between the two groups. Results This study enrolled 43 right eyes of 43 subjects from the CRP (+) group and 86 right eyes of 86 gender- and age-match subjects from the CRP (−) group. The choroidal thickness in the CRP (+) group was thinner than that in the CRP (−) group except for the outer nasal sector of the Early Treatment Diabetic Retinopathy Study (ETDRS) grid. However, the retinal thickness only in the inner temporal sector showed a significant difference. According to Pearson's correlation analysis, the CRP was significantly negatively correlated with the choroidal thickness in all sectors and the retinal thickness only in the inner temporal and outer nasal sectors of the ETDRS grid. Conclusion CRP levels are associated with retinal and choroidal thickness. The data related to the retinal and choroidal thickness changes may help understand the pathogenesis of specific ocular abnormalities in patients with systemic inflammation.

Ocular abnormalities in patients with beta-thalassemia: a prospective study

&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Beta thalassemia is severe genetic blood disorder caused by mutation in the gene encoding for the beta chains of haemoglobin and individuals with beta thalassemia require life-long red blood cell transfusions to survive which leads to hemosiderosis and affects all the organs in the body including eyes. The study aims to study ocular manifestations in these children and its correlation with age and serum ferritin levels.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A descriptive cross-sectional study was done in government medical college Jammu in 2014-2015 on 67 BTM children. Children below 3 years of age and with pre-existing ocular abnormalities, infections were excluded from the study. Ocular examination was done for any major eye abnormality, congenital malformations or trauma. Retinal examination was done using direct and indirect ophthalmoscope, changes were recorded.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;47.76% of children belonging to the group: 5-10 years, while only 5.97%, i.e., 4 in number pertained to the age group: &amp;gt;15 years. Lens opacity was seen in 29.85% of children. 31 children showed changes in retinal activity, while decreased visual acuity was also observed in 17 children. Iris was significantly affected in children with serum ferritin &amp;gt;2500 ng/ml. Even greater lenticular changes and opacities were observed in children with higher serum ferritin levels (&amp;gt;4500 ng/ml).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;As life expectancy for beta-thalassemia patients extends, regular monitoring of the progression of disease and symptoms to detect early changes in their ocular system is recommended, to achieve a better quality of life for this patient group.&lt;/p&gt;

Relationship between ocular abnormalities and hematologic alterations in patients infected naturally by Ehrlichia canis

ABSTRACT: To determine the association between ocular abnormalities and hematologic findings in Ehrlichia canis-infected dogs, 120 dogs suspected of canine ehrlichiosis were studied. All patients were subjected to rapid serologic diagnostic test for Ehrlichia canis, and the diagnosis was confirmed by quantitative PCR. PCR-positive patients underwent ophthalmologic examination and a hemogram and were grouped into patients with thrombocytopenia and anemia (G1), patients with thrombocytopenia (G2), and patients without hematologic disorders (G3). For ophthalmic evaluation, the patients were grouped into those having mild, severe, both mild and severe, and no ocular alterations. All patients presented with uveitis (100%). Severe ocular disorders predominated in G1 and G2 patients. Dogs with anemia and leukopenia showed severe ocular disorders. In dogs with a greater number of leukocytes and copies/µl of the TRAG gene, the intraocular pressure (IOP) tends to decrease and vice versa (r = −0.23, r = −0.26). In conclusion, uveitis is the earliest ocular alteration of canine ehrlichiosis. The severity of ocular abnormalities in patients with ehrlichiosis is associated with thrombocytopenia and may be aggravated by anemia and leukopenia. The hemogram and IOP are useful tools for predicting eye involvement in Ehrlichia canis-infected patients. In regions where Ehrlichia canis is endemic, the use of the tonometer should be routinely in dog general consultation.

Ocular abnormalities in patients with chronic renal failure on haemodial-ysis: A study from a rural tertiary care teaching institute.

Background: Chronic Renal Failure (CRF) affects every organ system, including the eye. Potential vision-threatening ocular complications among patients with CRF can lead to irreversible visual impairment. Aims: We assess and report ocular abnormalities in patients with chronic renal failure on hemodialysis in a rural setup. Settings and Design: This is a cross-sectional hospital-based study conducted in a rural tertiary care institute. Methods and Material: One hundred twenty subjects undergoing dialysis in our institute for a period of 2 years were included in the study by convenient sampling. Statistical analysis used: Data were analyzed using Microsoft excel and represented using mean, standard deviation, ratio, and percentages. Results: Among the subjects, 16.7% of total eyes had vision &lt;6/60, and 35% had &lt; 6/24. The causes for visual impairment were maculopathy in 31 eyes, cataract in 20 eyes followed by proliferative diabetic retinopathy in 11 eyes. Lid edema was present in 22.5%, conjunctival pallor in 30.8%, and corneal calcification in 2.4% of total eyes. Retinopathy was the most important finding. Hypertensive retinopathy was present in 93 out of a total of 120 patients (98%). Diabetic retinopathy was present in 49 out of 85 diabetic subjects (72.3%). Seventeen out of 93 patients of hypertensive retinopathy and 11 out of 49 subjects of diabetic retinopathy were detected for the first time. Conclusions: This study highlights the importance of ocular examination in patients with metabolic disorders like Diabetes and Hypertension. Vision threatening complications in CRF patients were detected easily without any complicated procedures and any cost. And even screening was possible in bedridden patients. In this study, the patient was recognized to have the renal disease by looking at the ocular abnormalities and was referred to a physician in the same visit. This signifies easy accessibility of changes in the eye, to know disease in the other organs like kidney. Keywords: Chronic renal failure, retinopathy, corneal calcification, haemodialysis

Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective.

Marfan syndrome is an autosomal dominant genetic connective tissue disorder that results from mutations in the fibrillin-1 gene located on chromosome band 15q15–21. Fibrillin, a glycoprotein, is widely expressed throughout the body and contributes to the elasticity and force-bearing capacity of connective tissue. In the eye, fibrillin is a key constituent of the ciliary zonules, which suspend the crystalline lens in place. The zonular defect leads to ectopia lentis, which is a hallmark of Marfan ocular abnormalities and occurs in 60% to 80% of cases. Other less common ocular features of Marfan syndrome are increased axial length, astigmatism, and flat cornea. Visual function in Marfan syndrome could be affected in several ways: ectopia lentis, refractive error, amblyopia, retinal detachment, cataract, and glaucoma. Management of a subluxated lens starts with the correction of refractive error with eyeglasses in mild cases. In more severe cases, especially when the lens bisects the pupil, complete correction of refractive error is impossible without removing the subluxated lens. The best method for visual rehabilitation after lens extraction is still debated. Aphakic Artisan lens implantation at the time of subluxated lens removal results in good visual outcomes with an acceptable safety profile. Studies with longer term follow-up and larger sample populations are needed to evaluate the safety of this procedure in patients with Marfan syndrome.

Ophthalmologic Findings in Congenital Generalized Lipodystrophy—A Possible Marker of Metabolic Disorders

Background and Aims: Metabolic disorders can present ophthalmologic changes. Congenital Generalized Lipodystrophy (CGL) is characterized by severe metabolic manifestations such as insulin resistance, diabetes and hypertriglyceridemia, but there are few data published about ophthalmologic findings in this condition. The purpose of this study is to describe ocular abnormalities in patients with CGL. Materials and Methods: It was a cross sectional study with 15 patients with CGL of both sex, aged between 2 and 29 years old. We evaluated the symptoms of surface eye disease and visual acuity. In the slit lamp, were evaluated the anterior segment of the eye, the break up time of the tear film with fluorescein and the corneal findings. Under mydriasis, the eye fundus examination was performed. Results: All subjects had dyslipidemia: 15/15 (100%) hypertriglyceridemia; 15/15 (100%) low HDL-c; 4/15 (26,7%) and high levels of LDL-c. Diabetes was presented in 7/15 (46,7%) cases. Symptoms of surface eye disease (blurred vision, pruritus, hyperemia or dry eye sensation) were presented in 9/15 (60%) patients and 8/15 (53%) had refractive errors: 5/8 (62,5%) astigmatism, 2/8 (25%) myopia and 1/8 (13%) myopia and astigmatism. In the slit lamp, 12/15 (80%) presented anterior blepharitis (seborrheic or meibomite), 13/15 (87%) decrease in the break up time of the tear (less than 8 seconds) and 5/15 (33,3%) keratitis. In the fundoscopy, 2/15 (13,3%) presented retinopathy (one with nonproliferative diabetic retinopathy and another presented proliferative diabetic retinopathy). Conclusion: These findings demonstrate high frequency of blepharites and its complications in patients with CGL, even in young subjects without diabetes. These data allow us to speculate that the presence of abnormalities in the anterior segment of the eye may be a marker of metabolic disorders as dyslipidemia and insulin resistance. Disclosure V.O. Fernandes: None. L.M.A. Gomes: None. A.D.R. Montenegro: None. C.M.M. Ponte: None. L.A.A. Batista: None. R.E.M. Aragão: None. J.V. Silva: None. R.M. Montenegro: None.

Ophthalmic changes in cleft lip and palate

The current study aimed to analyze through a literature review evidence of association between ocular changes and non-syndromic cleft lip and/or palate (NSCL/P). A literature review was carried out in accordance with the Cochrane Collaboration Group protocol. PubMed, Scopus, Academic Google and ISI Web of Science databases were systematically searched. A total of 16 studies were accessed, and three made up the final sample.All three studied ocular abnormalities in patients with NSCL/P.The articles found ocular abnormalities in 6.21%, 17.54% and 1.03% of patients respectively.The presence of ocular abnormalities in patients with NSCL/P was significant in this systematic review, but the articles all agreed that future studies should explore the possibility of a greater occurrence of ocular changes in individuals with NSCL/P.

Ocular Findings in Cerebral Palsy Patients Undergoing Orthopedic Surgery

To investigate the prevalence and clinical features of ocular abnormalities in patients with cerebral palsy (CP) and the association with gross motor function. A complete ophthalmologic examination was performed in 88 consecutive patients with CP before and during orthopedic surgery in a tertiary hospital from July 2008 to March 2010. The prevalence and clinical features of ocular abnormalities and the association with gross motor function state were investigated. Seventy-eight patients (89%) had ocular abnormalities. Refractive errors were found in 53 patients (60%). Strabismus including exotropia (50%), esotropia (9%), and hypertropia (9.1%) was found in 52 patients (59%). Posterior segment abnormalities were found in 19 patients (22%), cornea and lens abnormalities in 8 patients (9%), and epiblepharon in 5 patients (6%). Among 57 patients whose visual acuity could be measured, best-corrected visual acuity of the better eye was ≤ 20/40 in 18 patients (32%) and ≤ 20/200 in 3 patients (5%). Objective vision-impairing ocular abnormalities and vertical strabismus were significantly associated with poor gross motor function before orthopedic surgery. Ocular abnormalities were present in the majority of CP patients and patients with poor gross motor function were more likely to be afflicted with vision-impairing ocular abnormalities. Ophthalmologic evaluation is deemed necessary in CP patients, especially in those with poor motor function.

Ophthalmic features of Friedreich ataxia

To describe ocular abnormalities in patients with Friedreich ataxia (FRDA). Patients diagnosed with FRDA by genetic analysis were invited to participate in a prospective cohort. The patients included underwent an extensive ophthalmologic examination, including low-contrast Sloan letter charts test and retinal nerve fiber layer (RNFL) thickness analysis by optical coherence tomography (OCT). Twenty-three patients agreed to participate. In all, 19 patients (83%) had a visual acuity of at least 0.8 in both eyes. Fundus examination showed diffuse optic nerve pallor in four patients. However, OCT showed a decreased mean peripapillary RNFL thickness in all but three adult cases and one teenager. The RNFL thickness was found to have a positive correlation with visual acuity (P=0.001) and contrast sensitivity (P=0.001) and a negative correlation with time elapsed from diagnosis (P=0.001). OCT and low contrast test sensitivity show that the visual pathway is affected in FRDA. However, in most patients there is no significant visual impairment. In a small proportion of patients visual acuity declines with disease progression. This study provides a better understanding of the ophthalmic features of FRDA.

Ocular abnormalities in patients with beta thalassemia on transfusion and chelation therapy: Our experience

Ocular abnormalities in patients with beta thalassemia on transfusion and chelation therapy: Our experience

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED) accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican) have been reported. More than 50% of the reported cases have been associated with parental consanguinity. The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from those characteristic of the autosomal recessive CHED (CHED2). Hearing deficit in Harboyan is slowly progressive and typically found in patients 10–25 years old. There are no reported cases with prelinglual deafness, however, a significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected earlier, even at birth. Harboyan syndrome is caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12, indicating that CHED2 and Harboyan syndrome are allelic disorders. A total of 62 different SLC4A11 mutations have been reported in 98 families (92 CHED2 and 6 Harboyan). All reported cases have been consistent with autosomal recessive transmission. Diagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. A molecular confirmation of the clinical diagnosis is feasible. A variety of genetic, metabolic, developmental and acquired diseases presenting with clouding of the cornea should be considered in the differential diagnosis (Peters anomaly, sclerocornea, limbal dermoids, congenital glaucoma). Audiometry must be performed to differentiate Harboyan syndrome from CHED2. Autosomal recessive types of CHED (CHED2 and Harboyan syndrome) should carefully be distinguished from the less severe autosomal dominant type CHED1. The ocular abnormalities in patients with Harboyan syndrome may be treated with topical hyperosmolar solutions. However, corneal transplantation (penetrating keratoplasty) represents definitive treatment. Corneal transplantation produces a substantial visual gain and has a relatively good surgical prognosis. Audiometric monitoring should be offered to all patients with CHED2. Hearing aids may be necessary in adolescence.

Anomalias oculares em pacientes portadores de deficiência auditiva genética

Purpose: In order to verify the prevalence of ocular abnormalities in patients who are deaf due to genetic causes, this paper presents the visual assessment of 97 deaf patients. Methods: 97 patients with definite or suspected diagno- sis of congenital and genetic deafness underwent a complete ophthalmologic evaluation; 10 patients were excluded. Results: 42 (48.28%) patients presented one or more ocular abnormalities, 22 (25.29%) patients presented several abnormalities and clinical manifestations of established genetic diseases. Conclusions: The ocular abnormalities may be the only clinical manifestations associated with deafness. Therefore the ophthalmological examination is a helpful tool for the etiological diagnosis of deafness.

Ocular abnormalities in Alagille syndrome

Objective To assess the type and frequency of ocular abnormalities occurring in Alagille syndrome (AS) in a large group of affected patients and their parents and the potential pathogenetic role of fat-soluble vitamin deficiency. Design Observational case series. Participants Twenty-two children with AS and 23 of their parents participated. Main outcome measures Participants underwent full ophthalmic examination, including refraction, orthoptic examination, keratometry, slit-lamp examination, and funduscopy. Corneal diameter measurement was performed in a subset of nine and fluorescein angiography in a subset of six. Serum levels of vitamins A and E and cholesterol were measured. Results The most common ocular abnormalities in patients with AS were posterior embryotoxon (95%), iris abnormalities (45%), diffuse fundus hypopigmentation (57%, a previously unreported finding), speckling of the retinal pigment epithelium (33%), and optic disc anomalies (76%). Microcornea was not associated with large refractive errors, and visual acuity was not significantly affected by these ocular changes. Vitamin levels were normal. Ocular abnormalities including posterior embryotoxon, iris abnormalities, and optic disc or fundus pigmentary changes were detected in one parent in 36% of cases. Conclusions Alagille syndrome is associated with a characteristic group of ocular findings without apparent serious functional significance and probably unrelated to fat-soluble vitamin deficiency. Simple ophthalmic examination of children with neonatal cholestatic jaundice and their parents should allow early diagnosis of AS, eliminating the need for extensive and invasive investigations.