Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series.

INTRODUCTION: The Hermansky-Pudlak syndrome (HPS) is an autosomal recessive rare disorder characterized by oculocutaneous albinism, bleeding diathesis, chronic granulomatous colitis and/or pulmonary fibrosis. HPS is the most common single-gene disorder in Puerto Rico with a prevalence of 1:1,800 in the Northwest of the island. Risk of menorrhagia and post-partum hemorrhage (PPH) in cases of women with HPS have been described in the medical literature, but data regarding comprehensive description of bleeding diathesis remains lacking. For this reason, we aim to identify bleeding events using the International Society on Thrombosis and Hemostasis Bleeding Assessment Tool (ISTH-BAT), a standardized quantitative tool that translates the range of severity of bleeding symptoms into a cumulative bleeding score (BS). OBJECTIVE: To use the ISTH-BAT in HPS in order to describe bleeding symptoms and allow for comparison with other inherited bleeding disorders. METHODS: Puerto Rican females and adult participants with HPS based on genetic linkage were enrolled. The ISTH-BAT was administered and results were identified using descriptive statistical analysis. RESULTS: Questionnaire answers of twelve women with HPS-1 and HPS-3 were evaluated. Participants' mean BS was HPS-1 (11.4) and HPS-3 (8.0) Participants with HPS-1 and HPS-3 reported abnormal bleeding events that presented during dental extractions, menorrhagia, surgical interventions, gastrointestinal, oral cavity and post-partum. Patients with history of pulmonary fibrosis (PF) showed a higher mean bleeding score than those who had no history of PF. CONCLUSIONS: Female patients with HPS type 1 and 3 experienced abnormal bleeding events according to the ISTH-BAT bleeding score. Bleeding medications were inconsistently used and varied independently from healthcare professionals. The benefits of this study were to understand the history of bleeding complications in patients with HPS type 1 and 3 using an international validated system. The results of this study will help design strategies to improve the care we provide to this population.

Ocular Symptoms and Signs of Chikungunya Fever in Puerto Rico.

OBJECTIVE: To determine what ocular symptoms and signs are most common and if there are any associations with comorbid conditions in patients with Chikungunya fever. METHODS: A retrospective data review and analysis of the ocular symptomatology of 139 patients with Chikungunya fever who visited a local emergency room from August through September 2014. Frequencies were calculated, and Pearson's chisquare test employed. All the patients were confirmed as having Chikungunya with IgM (ELISA) before admittance into the study. RESULTS: Of the 139 patients, 42 (30.2%) had red eyes, 27 (19.4%) had conjunctivitis, and 13 (9.4%) had symptoms related to anterior uveitis, such as unilateral red eye, ciliary flush, or irregular pupil(s). Patients with a history of diabetes, hypertension, or cancer were more likely to have both red eyes (p = 0.033) and the symptomatology of anterior uveitis (p = 0.006), while patients with nausea or vomiting were more likely to have red eyes only (p = 0.001). CONCLUSIONS AND RELEVANCE: Red eyes, conjunctivitis, and anterior uveitis occur frequently in patients with Chikungunya fever. Systemic diseases, such as diabetes, hypertension, and cancer, may increase the risk of such ocular manifestations. Routine ophthalmic evaluation is warranted in patients with these medical conditions. The relevance of this study lies in the fact that this disease remains an important public health issue, since such ocular sequelae as may be present can range from mild to severe, either as an acute or a delayed manifestation.

Klinefelter Syndrome (49, XXXXY/48, XXXY) associated with narrow angle glaucoma: A case report.

INTRODUCTION: Previous studies have described Klinefelter syndrome as a genetic disorder characterized by at least one extra X chromosome and at least 47 chromosomes. It is the most common sex chromosome aneuploidy among men. Patients may present with large height, gynecomastia, low testosterone levels, infertility, hypogonadism and diseases usually more common in females such as osteoporosis, breast cancer and auto-immune disorders. Other rare ophthalmic associations have been described, such as diffuse choroidal atrophy, microphtalmia, cataracts, juvenile glaucoma, choroid colobomas and goniodysgenesis. OBJECTIVES: To report on the ocular findings in a Puerto Rican patient with Klinefelter syndrome (XXXXY/XXXY). PATIENTS AND METHODS: A patient with Klinefelter syndrome with revious history of elevated intraocular pressure underwent a comprehensive ocular examination, Humphrey visual fields and Stratus optical coherence tomography (OCT) tests. Patient had inreased intraocular pressure, visual field loss and OCT findings compatible with glaucoma. After laser YAG laser iridotomies, high IOP persisted. Brimonidine 0.2 % drops three times a day drops were prescribed to lower IOP. CONCLUSIONS: A patient with Klinefelter syndrome had poor visual acuity, high intraocular pressure, visual fields and OCT results, all compatible with angle closure glaucoma as part of the syndrome.

Germline retinoblastoma without inherited gene mutation: a case report.

Retinoblastoma is the most common primary ocular malignancy in childhood and can occur as a germline or somatic mutation. Recent studies have suggested a higher incidence of retinoblastoma in Hispanic children as compared to non-Hispanic white children of the same ages. We report the ocular findings of a 20 years old Hispanic male with a history of bilateral retinoblastoma. Although screening is currently performed with the red reflex test, analysis of current literature suggests the need to reassess screening recommendations for retinoblastoma.

GRANULOMATOSIS WITH POLYANGIITIS IN PUERTO RICO: CASE REPORTS.

Wegener's Granulomatosis or Granulomatosis with Polyangiitis (WG/GPA) is one of the antineutrophil cytoplasmic antibody associated vasculitis. Ocular manifestations the first presenting signs in patients with WG/GPA. We report on two patients diagnosed with WG/GPA and discuss their pertinent clinical findings. Our case report reviews the most common clinical manifestations and ophthalmic associations to compare them with the physical findings of two Hispanic patients. Further, to our knowledge this is the first report of ocular findings in patients with WG/GPA in two Puerto Rican patients.

Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report.

UNLABELLED: Previous studies have suggested that the G47D mutation leads patients to develop Oculocutaneous albinism (OCA) type IA. This mutation has been described in the Canary Islands. Historically, there has been a migration from the Canary Islands to some regions of Puerto Rico. OBJECTIVE: To report on the ocular findings of two Puerto Rican patients with OCA IA due to the G47D Tyrosinase gene mutation. PATIENT AND FINDINGS: Two unrelated patients with OCA underwent a comprehensive eye examination and were referred for genetic analysis. Patients had almost total iris transillumination, clear lenses, foveal hypoplasia with transparent maculae, and albinotic mid peripheries. Both patients had nystagmus, and only one patient had strabismus. CONCLUSIONS: Patients with the G47D muta- tion leading to OCA IA have poor visual acuities and poorly pigmented phenotypic ophthalmic findings. Further studies comparing ocular findings in patients th several mutations leading to OCA IA are warranted. To our knowledge this is the first report on ocular findings in Puerto Rican patients with OCA type IA with the rare G47D mutation.

Neuroophthalmology meets oncology: a case report.

Breast cancer is the second most common type of cancer worldwide and metastasis occurs in approximately 10% of the patents. A 69-year-old woman with past medical history of breast cancer came to her outpatient ophthalmologic clinic for follow-up evaluation of glaucoma. Upon evaluation the patient complained of ataxia, tinnitus, and headaches. Her visual field analysis showed a left homonymous hemianopsia. An MRI was ordered showing an intra-parenchymal lesion in the right cerebellar hemisphere. The visual signs were not compatible with the lesion on the cerebellum, but the MRI evidenced no other lesions in the optic tract. Our case report reminds physicians the importance and sensitivity of radiologic studies, the evaluation of neurologic symptoms in patients with history of breast cancer making co-management of these patients of utmost importance.

Open-angle glaucoma in patients with diabetic retinopathy at the Puerto Rico Medical Center.

BACKGROUND: The association of open-angle glaucoma (OAG) with diabetes mellitus remains controversial. We report on the frequency of open-angle glaucoma in patients having diabetic retinopathy in a population of the Puerto Rico Medical Center. MATERIAL AND METHODS: A cross-sectional study of 1,442 patients was done. Only the chart of patients 40 years-of-age and older, with a diagnosis of diabetic retinopathy and/or open-angle glaucoma were included. Descriptive analysis was done. Unadjusted and gender-adjusted logistic regression analyses were used to estimate risk of developing open-angle glaucoma in patients with diabetic retinopathy for each subsequent decade. RESULTS: 1,040 patients were diagnosed with diabetic retinopathy from July 1, 2004 to June 30, 2009. Also, 402 patients were diagnosed with open-angle glaucoma from July 1, 2007 to June 30, 2009. Of the 1,040 patients with diabetic retinopathy, 64 patients (6.15%) also had OAG. According to our gender-adjusted logistic regression analysis the estimated risk of developing open-angle glaucoma for patients 40 years-of-age with diabetic retinopathy increased for each subsequent decade until the seventh decade, odds ratio = 5.07 (95% confidence interval: 1.62-15.86). Thereafter, it decreased, odds ratio = 2.07 (95% confidence interval: 0.36-11.82). CONCLUSIONS: Our findings suggest that Puerto Rico patients between 40 to 79 years of age with diabetic retinopathy have an increased risk of developing open-angle glaucoma with each subsequent decade. Screening for open-angle glaucoma in patients with diabetic retinopathy is of utmost importance in the aging Puerto Rico population to prevent blindness.

A patient with the Weaver syndrome in Puerto Rico: a case report.

We report a 4 year-old boy with clinical features consistent with the Weaver syndrome. In addition to the typical findings, our patient had tarsal epicanthus, intermittent exotropia, hyperopia, and astigmatism. The deletion of the subtelomeric region of 18q has not been previously described in patients with the syndrome. Comparing clinical findings between patients with the de Grouchy and the Weaver syndrome suggest that both entities may be a spectrum of the same disease.

Determining the Incidence of Retinoblastoma and Survival Rate of Retinoblastoma Patients in Puerto Rico using the Cancer Registry of Puerto Rico (1985-2012).

OBJECTIVE: To determine the incidence of retinoblastoma (Rb) and the survival rate of patients with Rb in Puerto Rico. METHODS: This was a retrospective review of data from the Puerto Rico Central Cancer Registry (1985 - 2012). RESULTS: There were a total of 57 patients with Rb, with an overall incidence of 3.6 per 100,000 live births. By birth cohort, the incidence was 1 of every 29,393 live births. The mortality rate was 14.04% at 5 years. The incidence and the survival rate did not change over the 2 time periods that were compared: 1985 through 1998 and 1999 through 2012. CONCLUSION: The incidences of Rb are similar in Puerto Rico and the continental United States. However, our data indicate that the survival rate is lower in the former than it is in the latter. The incidence and the survival rate remained stable over the time studied.

Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3.

BACKGROUND: The Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico. These patients are at a significant risk of developing a variety of skin complications and little is known about the prevalence of dermatologic diagnoses in this population. OBJECTIVES: To report dermatologic manifestations in patients with Hermansky-Pudlak syndrome (HPS). Secondary aims include skin concerns, sun protection habits, barriers to dermatologic care, and skin cancer knowledge. METHODS: Cross-sectional study with twenty-nine Puerto Rican patients who carried a clinical diagnosis of HPS type 1 or type 3 through a telephonic questionnaire. RESULTS: Twenty-nine patients participated with a mean (SD) age of 37.3 (16.8) years and the majority were female (69%). The most common diagnoses were skin cancer (34.5%), acne (34.5%), bacterial skin infections (34.5%), warts (24%), urticaria (17.2%), and psoriasis (17.2%). The most common skin concerns were dry skin (62.1%), hair loss (58.9%), redness (34.5%), moles (31%), and rash (31%). The most common sun protection behavior was wearing a shirt that covers the shoulders (93.1%, often or always) and the least common was wearing a hat (24.1%, often or always). Higher income was significantly associated with being more likely to use sunscreen often or always (OR = 3.38, 95% CI 1.02-11.18, p = 0.04). Those in northern urban areas were significantly less likely to report barriers to dermatologic care (OR = 0.13, 95% CI 0.02-0.76, p = 0.02). CONCLUSIONS: This study provides an important overview of the most common self-reported skin manifestations in patients with HPS. Unfortunately, a high prevalence of cutaneous malignancy was reported. The results stress the need for adequate care and potential interventions to promote sun protection behaviors and skin cancer prevention.

Retinitis Pigmentosa in the Puerto Rican Population: A Geographic Distribution.

Background: Previous studies have reported on retinitis pigmentosa (RP) in Puerto Rico. Information on the geographic distribution of RP mutations in Puerto Rico may lead to higher rates of diagnosis and co-management. We aimed to evaluate whether there are areas with increased incidence of genes leading to RP in the Island. Materials and Methods: We conducted a non-concurrent prospective study on the genotype of 241 patients with RP in Puerto Rico. We evaluated their townships to determine whether there are clusters of genes leading to RP. Genetic studies were done using the Invitae inherited retinal diseases panel analyzing 330 genes. Results: A total of 100 patients were evaluated. Clusters of patients with mutations were found in certain townships. As depicted in the map, a cluster of patients with a mutation in the PDE6B gene was found in San Juan (9), those with the BBS1 gene occurred in San Juan (6) and Bayamón (4), mutations on the USH2A gene were found in Toa Baja (5), mutations in the CRB1 gene appeared in Ciales (4), and mutations in the BBS7 were found in Aibonito (2). Other mutations are scattered throughout the Island. Conclusion: Clusters of mutations were identified in several townships including San Juan, Bayamón, Toa Baja, Ciales, and Aibonito. Some of these are isolated geographically. Additional mutations were identified but only the most pertinent were reported. Genetic studies are warranted in all patients with RP in Puerto Rico.

A Genotype-Phenotype Analysis of Usher Syndrome in Puerto Rico: A Case Series.

Introduction Patients with Usher syndrome (USH) have retinitis pigmentosa (RP) and hearing loss inherited as an autosomal recessive (ar) trait. Mutations in the USH2A gene are the most common cause of Usher syndrome. We report the genotype-phenotype correlation in 10 patients with Usher syndrome from Puerto Rico (PR). This is the first genotype-phenotype analysis of patients with the syndrome in PR. Methods We conducted a chart review of patients who carried an Usher syndrome diagnosis. They underwent a comprehensive ophthalmic evaluation by at least one of the authors. This included best corrected visual acuity (BCVA), visual field mean deviation (VF MD), pattern standard deviation (PSD), and macular optical coherence tomography (mOCT) average volume and thickness. Genotyping was done using the Invitae Inherited Retinal Disease (IRD) Panel. Results Three patients had a logMAR BCVA of 1.0 or worse. The median VF MD was -29.7 dB and -29.2 dB in the OD and OS, respectively. The median PSD was 5.5 dB and 5.7 dB in the OD and OS, respectively. Upon macular OCT, patients had a median volume of 8.4 µm3 and 8 µm3 in the OD and OS, respectively. The median thickness was 235 µm and 223 µm in the OD and OS, respectively. All patients had pathogenic USH2A variants, and eight of these were compound heterozygotes. The most common variants were p.Cys575Tyr and p.Glu767Serfs*21, each present in four patients. Patients with the p.Cys759Phe variant had the worst phenotype with the worst BCVA, largest VF MD, and slimmer macular thickness. Conclusion Our findings are compatible with previously reported pathogenic mutations in the USH2A gene. However, the p.Cys759Phe variant has previously been correlated with a mild phenotype. In our study, the p.Cys759Phe variant correlated with the most severe phenotype. This variant has a high prevalence in the Spanish population, and PR was a Spanish colony for 400 years. The presence of this variant could be traced back to Spain. Genotyping patients with Usher syndrome is of utmost importance. Further studies to evaluate the common founder effect of patients with the syndrome in PR are warranted.

Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.

BACKGROUND: Retinitis pigmentosa (RP) is a genetically heterogeneous group of diseases characterized by complete progressive vision loss; it has a prevalence of approximately one in 2500-7000. Patients with RP may have isolated findings, or the disorder can occur as part of a constellation of other abnormalities that, together, are known as syndromic RP. The aim of this study was to describe the results of a genetic analysis of a cohort of Puerto Ricans with a clinical diagnosis of RP. MATERIALS AND METHODS: This was a cross-sectional study with a cohort of 224 Puerto Rican patients who carried a clinical diagnosis of RP. During a local (Puerto Rico) RP convention, the patients were offered genetic analysis. Volunteering patients signed consent forms for the study. Saliva samples were obtained and analyzed. Patients were evaluated by at least one of the authors. Patients with pathogenic mutation(s), according to the panel, were classified as positive and sorted based on the results. RESULTS: Of 224 patients, 161 (71.9%) had pathogenic gene variants associated with IRDs. 54.5% (122/224) of cases were conclusive. More than half (72/122) of these cases are explained by mutations in the BBS1, PDE6B, CNGB1, and USH2A genes. Genetic analysis showed that the highest rate of pathogenic variants in our cohort was found in the BBS1 gene. CONCLUSIONS: This was the first genetic analysis in Puerto Rico of patients with RP. The most common mutation associated with RP was found in the BBS1 gene. The frequency of other pathogenic variants related to RP in Puerto Rico were different to those reported in Spain.

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.

BACKGROUND: Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mutations in Tubulin Tyrosine Ligase Like 5 (TTLL5) represent a recently described cause of inherited cone-rod and cone dystrophy. This study describes the unusual phenotypes of three patients with autosomal recessive mutations in TTLL5. Examination of these patients included funduscopic evaluation, spectral-domain optical coherence tomography, short-wavelength autofluorescence, and full-field electroretinography (ffERG). Genetic diagnoses were confirmed using whole exome capture. Protein modeling of the identified variants was performed to explore potential genotype-phenotype correlations. RESULTS: Genetic testing revealed five novel variants in TTLL5 in three unrelated patients with retinal dystrophy. Clinical imaging demonstrated features of sectoral cone-rod dystrophy and cone dystrophy, with phenotypic variability seen across all three patients. One patient also developed high-frequency hearing loss during a similar time period as the onset of retinal disease, potentially suggestive of a syndromic disorder. Retinal structure findings were corroborated with functional measures including ffERG findings that supported these diagnoses. Modeling of the five variants suggest that they cause different effects on protein function, providing a potential reason for genotype-phenotype correlation in these patients. CONCLUSIONS: The authors report retinal phenotypic findings in three unrelated patients with novel mutations causing autosomal recessive TTLL5-mediated retinal dystrophy. These findings broaden the understanding of the phenotypes associated with TTLL5-mediated retinal disease and suggest that mutations in TTLL5 should be considered as a potential cause of sectoral retinal dystrophy in addition to cone-rod and cone dystrophies.

Strabismus surgery at the Puerto Rico Medical Center: a brief report.

OBJECTIVE: We undertook a retrospective study to evaluate strabismus surgeries done at the University Hospital and at the University Pediatric Hospital of the Puerto Rico Medical Center. METHODS: The surgery schedules ranging from January 2003 to December 2007 were reviewed. Three types of strabismus were evaluated, including esotropia, exotropia, and hypertopia. Differences in the distribution of strabismus type according to age group and gender were assessed using the extension of the Fisher's exact test. RESULTS: A total of 120 patients were included (56 males and 64 females); the patients ranged in age from 4 months to 70 years (average: 15.1 years. Analysis of the distribution of strabismus type showed that 63 (52.5%) had esotropia; 49 (40.8%) had exotropia; 4 (3.3%) had hypertropia; 3 (2.5%) had both hypertropia and exotropia; and 1 (0.9%) had both hypertropia and esotropia. Both esotropia and exotropia were significantly (p < 0.0001) more common in children than they were in adults; however, hypertropia and combined strabismus types were more common in adults than they were in children. There was no statistical (p > 0.05) significance found upon analyzing strabismus distribution according to gender. CONCLUSION: Among patients with this eye disorder at the Puerto Rico Medical Center, the most common type of surgically treated strabismus was esotropia. Further studies will elucidate the prevalence of strabismus in Puerto Rico.

A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.

BACKGROUND: Bardet-Biedl syndrome is a complex heterogeneous ciliopathy caused by genetic mutations. Although establishing genotype-phenotype correlations has been challenging, some regional variations have been previously reported. Due to its relative geographic isolation, Puerto Rico has a greater prevalence of Bardet-Biedl syndrome than do other regions. We sought to characterize the most frequent genotypic variations in a local cohort of Bardet-Biedl syndrome patients and report any genotypic-phenotypic trends. METHODS: Twenty-seven patients from an ophthalmology clinic in Puerto Rico with genetically confirmed Bardet-Biedl syndrome took a questionnaire inquiring about their most common symptoms. Ophthalmological information was obtained from patient records. The frequencies of the genotypic variations and symptoms were calculated. RESULTS: In the study population, BBS1 was the most prevalent mutated gene, followed by BBS7. In the BBS1 group, we found homozygotes for c.1169T>G (p.Met390Arg) and c.1645G>T (p.Glu549*), and compound heterozygotes for c.1169T>G (p.Met390Arg) and c.1645G>T (p.Glu549*), with one patient having c.1645G>T (p.Glu549*) and c.432+1G>A (splice donor). All the BBS7 patients were homozygous for c.632C>T (p.Thr211Ile). Compared to BBS7, we found that BBS1 patients generally had a milder ocular and systemic phenotype. However, when analyzing different BBS1 variants, patients with mutations in c.1645G>T (p.Glu549*), both compound heterozygous and homozygous, had more severe systemic phenotypes, overall. CONCLUSION: Our study was the first detailed genotype-phenotype analysis of the Bardet-Biedl syndrome in Puerto Rico. Genetic mutations in BBS1 and BBS7 seem to be the most common culprits behind Bardet-Biedl syndrome in this population. Although patients diagnosed with BBS1 are likely to display milder systemic features, this was not the case with our BBS1 patients having the c.1645G>T (p.Glu549*) mutation. Further studies should focus on the c.1645G>T (p.Glu549*) mutation's impact on the BBS1 gene and protein product.

Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report.

Compound heterozygous mutations, where two distinct mutated alleles are present within a particular gene, can give rise to the Bardet-Biedl syndrome (BBS). There is limited evidence suggesting that some compound heterozygotes can present with milder phenotypic characteristics than homozygotes. We report on the clinical characteristics of a 22-year-old Puerto Rican male who was compound heterozygous for the Bardet-Biedl syndrome type 1. Our patient had deteriorating visual acuity since early childhood. Clinical and ophthalmic examination revealed retinal dystrophy, polydactyly, and very mild learning disabilities. No additional systemic complications commonly observed in patients with the BBS were present. Allele-specific testing and DNA sequencing revealed compound heterozygous mutations (M390R and E549X) in the BBS1 gene. Our findings could suggest that patients who are compound heterozygotes for these specific BBS mutations can exhibit milder clinical signs than homozygous patients.

Visual acuity and nystagmus following strabismus surgery in patients with oculocutaneous albinism.

OBJECTIVE: To evaluate the effect of strabismus surgery on nystagmus and visual acuity in patients with oculocutaneous albinism. METHODS: We conducted a non-concurrent retrospective study of 13 Puerto Rican patients with all types of oculocutaneous albinism who underwent strabismus surgery. Patients underwent genetic linkage analysis to reach a final oculocutaneous albinism classification prior to surgery. Strabismus surgery was modified by under-correction of 0.5 mm in each muscle from the standard Marshall Parks' measurements in all patients. RESULTS: Six of the 13 patients with oculocutaneous reported an improved best corrected visual acuity after surgery. Two of the 13 patients with oculocutaneous had no nystagmus following strabismus surgery. All patients were orthotropic following surgery. CONCLUSION: Strabismus surgical undercorrection may be of benefit in patients with oculocutaneous albinism.

Usher syndrome in Puerto Rico: a clinical and genetic study.

PURPOSE: To evaluate patients with the Usher syn drome in Puerto Rico. METHODS: Three patients with the Usher syndrome underwent an ophthalmic and audiologic evaluation; and genetic linkage analysis. RESULTS: All patients were legally blind based on visual acuity and visual field results. Two patients had macular edema as shown on Stratus OCT. All patients had moderate hearing loss as part of the syndrome. A patient, and two family members had three mutations leading to protein changes including: p.S4588Y; p.Y4505C; and p.14474M. CONCLUSIONS: Phenotypic findings in patients with the Usher syndrome in Puerto Rico are similar to those previously reported. However, to our knowledge, neither these mutations nor OCT findings have been previously described in patients with the syndrome.