Visual Development During the Second Decade of Life in Albinism.

PURPOSE: To evaluate change in best corrected visual acuity (BCVA) during the second decade of life and the effects of albinism type and extraocular muscle surgery on BCVA in children with albinism. METHODS: In this retrospective longitudinal study, 41 patients with albinism with clinic visits recording binocular BCVA at least once between the ages of 10 and 13 years (visit A) and again between the ages of 17 and 20 years (visit B) were included. Type of albinism, age at each visit, and interval eye muscle surgeries were recorded for each patient. RESULTS: Forty (98%) patients showed BCVA improvement or stability between visits A and B. There was no significant effect of interval extraocular muscle surgery on BCVA. Those carrying either a clinically presumed or moleculary confirmed diagnosis of oculocutaneous albinism types 1B and 2 had the best visual outcomes, consistent with previous studies. CONCLUSIONS: In the majority of patients with albinism, significant improvement in BCVA occurs during the second decade of life. Extraocular muscle surgery was not a significant factor in BCVA improvement in albinism. Overall, the assessments support the finding of improvement of visual acuity in children with albinism at earlier ages and provide new information beneficial in predicting visual outcomes in the second decade of life. [J Pediatr Ophthalmol Strabismus. 2018;55(4):254-259.].

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.

Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities. Fundus examination findings of retinal dystrophy were present at age 3 years. Both boys have abnormal electroretinograms with reduced or undetectable rod responses along with reduced cone responses consistent with rod-cone dystrophy. Our observations suggest that early ophthalmic examination and re-evaluations are indicated in children with Costello syndrome.

Outcomes of keratoplasty in the mucopolysaccharidoses: an international perspective.

OBJECTIVE: To describe visual outcomes after penetrating keratoplasty and deep anterior lamellar keratoplasty in patients with mucopolysaccharidoses. METHODS: This is a retrospective review of keratoplasty in consecutive patients from Brazil, England, Finland, Germany, Portugal, Sweden and the USA. All patients had corneal clouding due to mucopolysaccharidoses. Preoperative and postoperative visual outcome and ocular comorbidities were identified. Success was arbitrarily defined as any improvement in visual acuity or best-corrected visual acuity better than logarithm of the minimum angle of resolution 0.30 (20/40). Statistical analysis included only data from first operated eyes in the 16 patients who underwent bilateral keratoplasty. RESULTS: Forty-eight eyes from 32 patients with mucopolysaccharidoses I, IV or VI are reported. Mean follow-up was 70 months (range: 5-186). Penetrating keratoplasty was performed in 45 eyes and deep anterior lamellar keratoplasty in 3 eyes. At last follow-up, a successful visual outcome for penetrating keratoplasty in first operated/only operated eyes was found in 63%. Rejection episodes occurred in 23% of grafts; however, a clear graft was recorded at last follow-up in 94%. Ocular pathway comorbidities were identified in 63% of eyes transplanted. CONCLUSIONS: Clear corneal grafts can be obtained for patients with corneal clouding due to mucopolysaccharidosis with improvement in visual acuity in the majority.

Comprehensive Adult Medical Eye Evaluation Preferred Practice Pattern(®) Guidelines.

UNLABELLED: COMPREHENSIVE ADULT MEDICAL EYE EVALUATION® PREFERRED PRACTICE PATTERN® GUIDELINES: Evidence-based update of the Comprehensive Adult Medical Eye Evaluation Preferred Practice Pattern® (PPP) guidelines, discussing the rationale and components of an ophthalmic evaluation for adult patients with and without risk factors.

A comparison of treatment approaches for bilateral congenital nasolacrimal duct obstruction.

PURPOSE: To compare the clinical outcomes of two treatment approaches for bilateral nasolacrimal duct obstruction (NLDO) in infancy. DESIGN: Multicenter, randomized clinical trial. METHODS: We studied 57 infants between the ages of 6 and <10 months who had bilateral NLDO. Participants were randomized to receive either (1) immediate office-based probing within two weeks (n = 31) or (2) 6 months of observation and nonsurgical management followed by surgical facility-based probing for unresolved cases (n = 26). Treatment success was defined as the absence of clinical signs of NLDO (epiphora, increased tear lake, mucous discharge) in both eyes on masked examination at 18 months of age. RESULTS: In the observation and deferred facility probing group, resolution without surgery occurred by 6 months after randomization in both eyes for 14 participants (56%), in one eye for 5 (20%), and in neither eye for 6 (24%). Eight participants in the observation and deferred facility probing group underwent facility probing (one of whom later had a second facility probing). Four participants in the immediate office probing group later underwent an additional procedure in a surgical facility. In the immediate office probing group, treatment success at 18 months of age occurred in both eyes for 19 of 29 (66%) participants and in one eye for 3 (10%); in the observation and deferred facility probing group, treatment success occurred in both eyes for 19 of 25 (76%) participants and in one eye for 3 (12%) (difference in success = -10%; 95% CI = -35% to 14%). CONCLUSIONS: Both the immediate office probing approach and the observation and deferred facility probing approach are successful and reasonable treatment options for infants with bilateral NLDO.

Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.

Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding diatheses, and lysosomal accumulation of ceroid lipofuscin, which in some cases may cause granulomatous colitis and pulmonary fibrosis. Any of these complications could result in a shortened life span for patients with HPS. We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS documented in the literature. This report highlights the importance of typing HPS to counsel patients regarding disease prognosis.

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity of these skeletal manifestations, the non-skeletal manifestations are frequently overlooked despite their significant contribution to disease progression and impact on quality of life. This review provides detailed information regarding the non-skeletal manifestations and suggests long-term assessment guidelines. The visual, auditory, digestive, cardiovascular, and respiratory systems are addressed and overall quality of life as measured by endurance and other functional abilities is discussed. Impairments such as corneal clouding, astigmatism, glaucoma, hearing loss, hernias, hepatomegaly, dental abnormalities, cardiac valve thickening and regurgitation, obstructive sleep apnea, tracheomalacia, restrictive and obstructive respiratory compromise, and muscular weakness are discussed. Increased awareness of these non-skeletal features is needed to improve patient care.

Correlation of recognition visual acuity with posterior retinal structure in advanced retinopathy of prematurity.

OBJECTIVE: To compare Early Treatment Diabetic Retinopathy Study visual acuity outcome with retinal structural outcome at the 6-year follow-up examination of infants randomized in the Early Treatment for Retinopathy of Prematurity study. METHODS: We compared the results in 606 eyes of subjects in whom both functional (visual acuity) and retinal structural assessments were obtained at age 6 years. Visual acuity assessments were performed by masked testers,and retinal examinations were performed by certified ophthalmologists. MAIN OUTCOME MEASURES: Visual acuity and retinal structure at age 6 years. RESULTS: Concordant outcomes occurred in 462 eyes(76.2%): 402 eyes had favorable functional and structural outcomes and 60 eyes had unfavorable functional and structural outcomes. Discordant outcomes occurred in 92 eyes (15.2%): 86 eyes had unfavorable functional and favorable structural outcomes and 6 eyes had favorable functional and unfavorable structural outcomes.Of the 86 eyes with unfavorable functional and favorable structural outcomes, 43 had optic atrophy (23 eyes) and/or retinal abnormalities that were less severe than those considered to be unfavorable (32 eyes). In 52 eyes (8.6%), retinal structure could not be assessed or the visual acuity was untestable. CONCLUSION: Posterior pole appearance correlates well with visual acuity in 6-year-old infants with a history of advanced retinopathy of prematurity.

Positive angle kappa: a possible sign of aniridia.

INTRODUCTION AND PURPOSE: Aniridia is a panocular disorder with variable expressivity, caused by PAX6 mutations. Foveal hypoplasia and nystagmus occur in both aniridia and albinism. Individuals with albinism have a moderately positive angle kappa. This study evaluates the angle kappa in individuals with aniridia. PATIENTS AND METHOD: We performed a retrospective chart review of recorded angle kappa for individuals with aniridia. In addition, we prospectively examined the monocular corneal light reflex in each eye of patients with congenital aniridia and central fixation. We recorded other ocular characteristics and the results of gene testing. Patients with eccentric fixation or corneal surgery were excluded, as were patients with retinal abnormalities that might have influenced the angle kappa. RESULTS: We included sixteen individuals with congenital aniridia and found that all had a positive angle kappa. Two patients underwent pattern visual evoked potential (VEP) testing with monocular stimulation and were found to have a reversal of polarity, indicating misrouting of the retino-striate fibers. CONCLUSION: The phenotype of aniridia is variable. However, a positive angle kappa may be considered to be a frequent clinical feature of aniridia.

Outcome of penetrating keratoplasty for mucopolysaccharidoses.

OBJECTIVE: To describe the outcome of penetrating keratoplasty (PK) for corneal opacification in the setting of systemic mucopolysaccharidoses (MPS). METHODS: A consecutive case series and literature review. RESULTS: Eight eyes from 5 patients with MPS (MPS I, MPS IV, and MPS VI) and a history of PK met inclusion criteria for our case series at the University of Minnesota Medical Center. The mean age at the time of PK was 40.5 years (range, 11.7-65.3 years). Mean follow-up time after the PK was 4.9 years (range, 1-11 years). Mean (SD) visual acuity before PK was 0.90 (0.38) logMAR. The mean (SD) visual acuity at the last visit for all 8 eyes was 0.32 (0.16) logMAR. Visual acuity improved in 7 of 8 eyes (P = .002). Although early rejection led to repeat PK in 1 eye, no recurrent opacity consistent with MPS was noted in any of the corneal grafts. In a literature review, we found 23 reports documenting 40 initial and 3 repeat cases of PK in the setting of MPS. Of these, 31 initial and 2 repeat corneal grafts were reportedly clear during follow-up, ranging from 0.25 to 13 years. CONCLUSIONS: Penetrating keratoplasty is often a beneficial intervention in appropriate patients with corneal clouding due to MPS. Improvement in vision can be obtained with stable, clear corneal grafts in this population.

Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis.

Ocular pathology is common in patients with mucopolysaccharidosis (MPS), a hereditary lysosomal storage disorder, where the eye as well as other tissues accumulate excessive amounts of glycosaminoglycans. Despite genetic and phenotypic heterogeneity within and between different types of MPS, the disease symptoms and clinical signs often manifest during the first 6 months of life with increasing head size, recurrent infections, umbilical hernia, growth retardation and skeletal problems. Typical ocular features include corneal clouding, ocular hypertension/glaucoma, retinal degeneration and optic nerve atrophy. Visual deterioration and sensitivity to light may substantially reduce the quality of life in MPS patients, particularly when left untreated. As an early intervention, haematopoietic stem cell transplantation and/or enzyme replacement therapy are likely to improve patients' symptoms and survival, as well as visual outcome. Thus, it is of utmost importance to ensure proper detection and accurate diagnosis of MPS at an early age. It is of fundamental value to increase awareness and knowledge among ophthalmologists of the ocular problems affecting MPS patients and to highlight potential diagnostic pitfalls and difficulties in patient care. This review provides insight into the prevalence and severity of ocular features in patients with MPS and gives guidance for early diagnosis and follow-up of MPS patients. MPS poses therapeutic challenges in ocular management, which places ophthalmologists next to paediatricians at the forefront of interventions to prevent long-term sequelae of this rare but serious disease.

A caruncular choristoma presenting as an eyelid mass in an infant.

A 7-week-old patient presented for evaluation of a congenital eyelid mass. Following surgical excision of the lesion, histopathologic diagnosis of caruncular choristoma was made. To the authors' knowledge, this is the first report of caruncular tissue presenting as an external eyelid mass.

Periocular granuloma annulare in four children.

Subcutaneous granuloma annulare is a skin condition that occurs on the lower extremities, hands, and scalp of healthy children. It rarely occurs in the periocular area, and when it does, the annular pattern is often absent. Histopathology is diagnostic and shows palisading histiocytes around areas of necrobiosis. Although benign in nature, the lesions tend to multiply, grow in size, and often recur. They usually resolve spontaneously and do not require treatment. Four cases of periocular subcutaneous granuloma annulare, from four different geographical areas, were identified through on-line postings on the worldwide mailing list of the Organization for Pediatric Ophthalmology and Strabismus (http://lists.ucsd.edu/mailman/listinfo/ped-ophth-1). These 4 patients are reported here, and a brief review of the literature is presented.

Outcome of angle surgery in children with aphakic glaucoma.

PURPOSE: To investigate the outcome of trabeculotomy and/or goniotomy for pediatric aphakic glaucoma. METHODS: Retrospective chart review of consecutive children who had congenital cataract surgery between 1990 and 2006 and required goniotomy and/or trabeculotomy for aphakic glaucoma. Treatment success was defined as postoperative intraocular pressure of

Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome.

Chromosome 13q deletion syndrome is characterized by growth retardation, cognitive delays, and organ and musculoskeletal deformities. Typical ocular associations include retinoblastoma, microphthalmia, and colobomas. We report a case of bilateral iris heterochromia and retinal pigment abnormalities in a child with 13q-syndrome.

Severe visual impairment in children with mild or moderate retinal residua following regressed threshold retinopathy of prematurity.

PURPOSE: To describe clinical features of patients from the Cryotherapy for Retinopathy of Prematurity (CRYO-ROP) trial who, after developing severe ROP in infancy, had minimal or moderate retinal residua in at least one eye but a visual acuity of worse than 20/200 in both eyes at the 10 year examination. METHODS: Data from the 10 year CRYO-ROP Trial follow-up exams were evaluated to identify all patients with retinal outcomes of no retinopathy of prematurity (ROP) residua, straightened temporal vessels, or macular heterotopia in at least one eye, but visual acuity less than 20/200 in both eyes. Presence of optic atrophy, nystagmus, and optic disk cupping and developmental survey results were examined. RESULTS: Of 247 patients examined at 10 years, 16 met our inclusion criteria. At the last age at which the following data were recorded, seven had optic atrophy at the 10 year examination, one had optic disk cupping >0.5 at the 5(1/2) year examination, and eight had nystagmus under binocular conditions at the 24 month examination. Nine patients had a below-normal developmental test score on the Functional Independence Measure for Children (WeeFIM). After clinical data interpretation, we concluded that the predominant cause of visual impairment was postgeniculate disease in five patients, ROP in six patients, and combined anterior and posterior visual pathway disease in two patients; in three patients data were insufficient to make a determination. CONCLUSIONS: Poor visual function with mild to moderate retinal residua of severe ROP in at least one eye is relatively rare. In such patients, anterior, posterior, or combined visual pathway disease can occur.

The natural history of glaucoma and ocular hypertension after pediatric cataract surgery.

INTRODUCTION: We sought to define the prevalence and natural history of ocular hypertension and glaucoma for at least a 10-year period after pediatric cataract surgery. METHODS: We conducted a prospective observational study of patients who received pediatric cataract surgery. Inclusion criteria included 2 directed ophthalmologic examinations performed at a minimum of 5 and 10 years after surgery. RESULTS: A total of 63 patients (22 with bilateral cataracts and 41 with unilateral cataracts) were examined at a median of 15.1 year (range, 10.3-21.3 years) after surgery. A majority of the subjects had glaucoma or ocular hypertension (ie, 59%; 37/63). Nineteen percent (12/63) had glaucoma (5/22 with bilateral cataracts and 7/41 with unilateral cataracts). Approximately half (7/12) had developed glaucoma during the first 5-year observational period and the remainder (5/12) developed it during the following observational period. Forty percent (25/63) of the patients had ocular hypertension in at least one aphakic eye (9/23 with bilateral cataracts and 16/40 with unilateral cataracts). The rate of progression from ocular hypertension to glaucoma over a mean observational period of 7.2 years (range, 6.2-8.1 years) was 23% (5/22). DISCUSSION: Patients who receive surgery for pediatric cataracts are at very high risk of developing ocular hypertension and glaucoma. Patients can develop late-onset glaucoma and ocular hypertension more than 10 years after surgery. Years of ocular hypertension may precede the diagnosis of late-onset glaucoma.

Functional and structural outcomes following lensectomy for ectopia lentis.

PURPOSE: High refractive errors and optical aberrations reduce vision when the lens edge bisects the pupil. We studied outcomes of eyes with ectopia lentis following lensectomy. METHODS: Charts of 11 consecutive patients with bilateral ectopia lentis who underwent lensectomy-anterior vitrectomy in at least one eye from 1985 to 2004 were reviewed. Eighteen eyes were operated. One eye was excluded due to short-term follow-up (<2 years). RESULTS: Mean age at surgery was 7.7 years (2 to 17 years). Median follow-up after lensectomy was 10 years (range 2 to 16 years). Six eyes were followed for 6 to 10 years, and another six eyes were followed for 11 to 16 years. Patient diagnoses included Marfan syndrome (nine eyes), ectopia lentis et pupillae (three eyes), simple ectopia lentis (two eyes), homocystinuria (two eyes), and sporadic spherophakia (one eye). Preoperative best-corrected visual acuity (BCVA) ranged from 20/60 to light perception, and postoperative BCVA ranged from 20/20 to 20/100 (14 eyes were at least 20/30). Complications included posterior vitreous detachment (two eyes, 12%), glaucoma (one eye, 6%), transient ocular hypertension (one eye, 6%), wound dehiscence with iris incarceration (one eye, 6%), transient vitreous hemorrhage (one eye, 6%), and peripheral anterior synechiae (one eye, 6%). No retina detached. CONCLUSIONS: Our cohort of patients with long-term follow-up shows that pars plana lensectomy can be successful in restoring vision when conservative measures fail.

15-year outcomes following threshold retinopathy of prematurity: final results from the multicenter trial of cryotherapy for retinopathy of prematurity.

OBJECTIVE: To report the ocular structure and visual acuity outcomes at age 15 years, and the incidence of retinal detachment between 10 and 15 years of age, for patients in the Multicenter Trial of Cryotherapy for Retinopathy of Prematurity (CRYO-ROP). METHODS: Subjects were 254 survivors from 291 preterm children with birth weights less than 1251 g and severe (threshold) retinopathy of prematurity (ROP) in one or both eyes, who participated in the CRYO-ROP trial. At age 15 years, unfavorable ocular structure was posterior retinal fold or worse judged by study-certified ophthalmologists. Unfavorable distance visual acuity was 20/200 or worse measured by study-certified testers using Early Treatment of Diabetic Retinopathy Study recognition acuity charts. RESULTS: Thirty percent of treated eyes and 51.9% of control eyes (P<.001) had unfavorable structural outcomes. Between 10 and 15 years of age, new retinal folds, detachments, or obscuring of the view of the posterior pole occurred in 4.5% of treated and 7.7% of control eyes. Unfavorable visual acuity outcomes were found in 44.7% of treated and 64.3% of control eyes (P<.001). CONCLUSION: The benefit of cryotherapy for treatment of threshold ROP, for both structure and visual function, was maintained across 15 years of follow-up. New retinal detachments, even in eyes with relatively good structural findings at age 10 years, suggest value in long-term, regular follow-up of eyes that experience threshold ROP.

Glaucoma following cataract surgery in children: surgically modifiable risk factors.

PURPOSE: To determine the incidence of glaucoma following cataract surgery in children and to identify surgically modifiable risk factors that may influence the development of glaucoma in these eyes. METHODS: All lensectomies performed in patients 18 years old or younger over a 7-year period (1995 through 2001) were identified by conducting a database search. A retrospective chart review was performed for every patient identified. Data extraction included patient's age at surgery, intraocular lens implantation at cataract extraction, date of glaucoma onset, and length of follow-up. Statistical methods included risk ratio calculations and Kaplan-Meier analyses for the "time to glaucoma" for eyes undergoing lensectomy. RESULTS: We identified 116 eyes of 79 children in whom lensectomy was performed. The median age at cataract surgery was 178 days (approval 6 months). Mean follow-up time was 2.7 years. The overall incidence of glaucoma was 11%. Kaplan-Meier analysis demonstrated that eyes operated on at less than 30 days of age were statistically more likely to develop glaucoma than eyes operated on at age 30 days or older (P < .001). For those operated on at less than 30 days of age, the risk ratio was 11.8 for subsequent glaucoma development compared with those operated on at 30 days of age or older. Forty-nine eyes (42%) had primary intraocular lens implantation, and none of these developed glaucoma (P = .001). CONCLUSIONS: Timing of surgery at less than 30 days of age and lack of implantation of an intraocular lens at lensectomy were both associated with an increased risk of subsequent glaucoma. Knowledge of modifiable risk factors is essential to allow ophthalmic surgeons to make cogent decisions regarding the care of children with cataracts.