Dominick M. Maino

Alport syndrome: a review

Alport syndrome, a hereditary nephritis accompanied by high-tone sensorineural deafness and distinctive ocular signs was first noted in the literature during the early 1900s. This disease is caused by a genetic defect in Type IV collagen which makes up basement membranes in many body systems. The patient will usually have bilateral anterior lenticonus causing varied refractive errors. You may also note yellow-white to silver flecks within the macular and midperipheral regions of the retina. The treatment of the visual problems is an important but secondary concern due to the seriousness of the systemic disease. Dual sensory loss, however, creates an urgent need for appropriate vision care. Due to the high risk for developmental delay and decreased social integration, early intervention should be considered in the treatment plan. Coping strategies for the patient (and the family) need to be addressed because of the chronicity of this syndrome. The primary care optometrist will be challenged by the individual with Alport syndrome since a balance between oculo-visual, developmental/psycho-educational and systemic care is required. A multi-disciplinary approach by the healthcare management team will enhance the quality of life and positive outcomes for these patients.

Side effects of chemotherapeutic oculo-toxic agents: a review.

Patients with cancer are often prescribed chemotherapeutic substances that can be extremely oculo-visual-toxic in nature. Over the past several years, advances in cancer treatment have resulted in increased survival rates and patient longevity. Unfortunately, greater survival rates and longevity mean increased exposure to potentially harmful oculo-toxic substances and a higher incidence of oculo-visual side effects. Patients receiving chemotherapy may complain of symptoms that can imitate functional disorders such as blurred vision and photophobia (i.e. disorders of accommodation) and also include dry eyes or other symptomology commonly associated with disorders of the primary eye care system. These deleterious side effects affect the patients quality of life and warrant our attention. It is essential that eye and vision care professionals appropriately diagnose and manage these induced disorders. This review presents the oculo-visual side effects of commonly used chemotherapeutic agents, the available treatment options when these unwanted side effects occur, and when known, the mechanism by which these agents cause oculo-visual toxicity.

Cognitive and Visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers

Background The fragile X gene contains an unstable trinucleotide (CGG) repeat that expands as it is passed from female carriers to the affected offspring. Obligate female carriers may have a premutation or full mutation genotype. Methods In this study, fragile X premutation and full mutation female carriers were compared on three tasks of visual processing and cognitive skills. Results In each case, there were significant differences between premutation and full mutation carriers on a number of the subtests or the full test scores. Specifically, full mutation female carriers performed more poorly in visual-motor processing and analysis-synthesis on the Woodcock-Johnson Psycho-Educational Battery–Revised, The Developmental Test of Visual Motor Integration, and on five of the seven subtests of the Test of Visual-Perceptual Skills. Regression analyses revealed significant negative correlations between mutation size and cognitive ability. Conclusions These findings have implications in educational planning decisions for full mutation carriers who may present with specific cognitive deficits.

Poland-Möbius syndrome: a case report.

The Poland-Möbius syndrome is a combination of two rare congenital syndromes with an estimated prevalence of 1:500,000. It is characterized by a nonprogressive bilateral facial paralysis, the inability of the eyes to abduct beyond the midline, orofacial anomalies, limb deficiencies, and an absence or hypoplasia of the pectoral muscles.

Optic nerve heads in pediatric African Americans using retinal tomography.

Purpose. To characterize optic nerve head (ONH) parameters including symmetry between the eyes in healthy African American children using the Heidelberg retinal tomograph II, and to determine if there are associations between these parameters and age, refractive error, or gender. Methods. The ONHs of 146 African American children aged 6 to 17 years without ocular disease were imaged with the Heidelberg retinal tomograph II. Mean values for 11 ONH parameters were determined as was their relationship to age, gender, and refractive error. Interocular symmetry of the parameters was determined. Results. The mean (±standard deviation) disc area, rim area, and cup area were 2.18 ± 0.57 mm2, 1.63 ± 0.40 mm2, and 0.52 ± 0.37 mm2, respectively. The mean linear cup-to-disc (C/D) ratio was 0.45 ± 0.15, and mean cup depth was 0.22 ± 0.10 mm. The mean retinal nerve fiber layer thickness was 0.26 ± 0.07 mm. The ONH parameters were not related to age or refractive error. With the exception of the C/D area ratio and linear C/D ratio, which were greater in boys than in girls, ONH parameters were not related to gender. Most parameters were strongly correlated between the right and left eyes. The average interocular differences in disc area, cup area, rim area, linear C/D ratio, and mean retinal nerve fiber layer thickness were 0.09 ± 0.31 mm2, 0.04 ± 0.22 mm2, 0.06 ± 0.40 mm2, 0.02 ± 0.11, and 0.00 ± 0.06 mm, respectively. Conclusions. ONH parameters were not related to age and refractive error, and only C/D area ratio and linear C/D ratio were greater in boys than girls in a clinical sample of African American children. These measures of normative ONH parameters and range of interocular differences may be helpful in clinical pediatric eye care to facilitate identification of African American children with abnormal optic discs.

Polypharmacy and the lack of oculo-visual complaints from those with mental illness and dual diagnosis

BACKGROUND Individuals with mental illness (MI) and intellectual disability (ID) are characterized as dually diagnosed (DD). These individuals are known to have numerous systemic and oculo-visual anomalies. This comorbidity of conditions should elicit frequent oculo-visual complaints from these patients during the initial review of systems. A search of MedLine yielded one article that was published on oculo-visual symptomology/pain associated with MI and DD. This report appears to be the first to assess the frequency of these symptoms within these 2 unique populations. METHODS A retrospective analysis of all medical records for patients (N = 202) evaluated at the Neumann Association (NA) Developmental Disabilities Service of the Illinois Eye Institute was completed. Only the records of patients who had either MI or DD and who were prescribed antipsychotics, antidepressants, anticonvulsants, or tranquilizers/anxiolytics were used for our analysis. Upon record review, 89.9% of MI and 59.4% of DD individuals met the above subject criteria. We determined the frequency of ocular anomalies, drugs taken, and complaints reported by patients during the initial review of systems. RESULTS The most common documented side effects for the targeted drug types were decreased or blurred vision (near or far), visual hallucinations, decreased accommodation, and eyelid/conjunctiva irregularities. In our sample, the most frequent ocular anomalies encountered were astigmatism (50% MI and 37.84% DD), myopia (60.71% MI and 62.16% DD), presbyopia (35.71% MI and 37.84%DD), and blepharitis (32.14% MI and 32.43%DD). Additionally, the most frequently encountered complaints were no complaints (45.16% MI and 46.84% DD), blurry vision (17.74% MI and 17.72% DD), and need new glasses (11.29% MI and 17.72% DD). CONCLUSIONS It has been established that MI and DD populations exhibit a higher incidence of oculo-visual anomalies (uncorrected refractive error, binocular vision anomalies, ocular pathology) than noted in the general population. They are also typically taking 1 or more neuropsychotropic medications that are frequently associated with undesirable visual side effects. Individuals with MI and DD should report numerous complaints associated with the medications they take and the oculo-visual anomalies they exhibit during the initial case history and the review of systems. The data from this study suggest that this is not the case and that only about 50% of those who should have complaints actually report them.