Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3)

Jardón, Javier; Izquierdo, Natalio J.; Renta, Jessica Y.; García-Rodríguez, Omar; Cadilla, Carmen L.

doi:10.3109/13816810.2014.907920

Cited by 4 publications

(5 citation statements)

References 23 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the present study, the proband with HPS3 showed a very mild decrease in visual acuity, so these findings correspond to previous studies. Meanwhile, our study showed similar results in iris transillumination examination [23]. As previously reported, patients with HPS type 3 had less iris transillumination than patients with HPS type 1 [24].…”

Section: Discussionsupporting

confidence: 90%

“…Previous studies have reported that different types of HPS patients showed various degrees of visual impairment. Visual impairment is usually less severe in patients with HPS type 3 than in those with HPS type 1 [ 23 ]. In the present study, the proband with HPS3 showed a very mild decrease in visual acuity, so these findings correspond to previous studies.…”

Section: Discussionmentioning

confidence: 99%

“…Strabismus is another common characteristic in HPS patients [ 23 ]. A previous report showed that different types of strabismus may be associated with various types of albinism in HPS patients [ 25 ].…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome

Wang

Liu

Dong

et al. 2021

BioMed Research International

View full text Add to dashboard Cite

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder with an autosomal recessive inherited pattern. It is mainly characterized by deficiencies in lysosome-related organelles, such as melanosomes and platelet-dense granules, and leads to albinism, visual impairment, nystagmus, and bleeding diathesis. A small number of patients will present with granulomatous colitis or fatal pulmonary fibrosis. At present, mutations in ten known genetic loci (HPS1–11) have been identified to be the genetic cause of HPS. In this study, we enrolled a consanguineous family who presented with typical HPS phenotypes, such as albinism, visual impairment, nystagmus, and bleeding diathesis. Whole-exome sequencing and Sanger sequencing were applied to explore the genetic lesions of the patient. A novel homozygous frameshift mutation (NM_032383.5, c.1231dupG/p.Aps411GlyfsTer32) of HPS3 was identified and cosegregated in the family members. Furthermore, real-time PCR confirmed that the mutation decreased the expression of HPS3, which has been identified as the disease-causing gene of HPS type 3. According to ACMG guidelines, the novel mutation, resulting in a premature stop codon at amino acid 442, is a pathogenic variant. In summary, we identified a novel mutation (NM_032383.5, c.1231dupG/p.Aps411GlyfsTer32) of HPS3 in a family with HPS. Our study expanded the variant spectrum of the HPS3 gene and contributed to genetic counseling and prenatal genetic diagnosis of the family.

show abstract

Section: Discussionsupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome

Wang

Liu

Dong

et al. 2021

BioMed Research International

View full text Add to dashboard Cite

show abstract

“…The slit lamp examination is part of the comprehensive ophthalmologic evaluation in patients with HPS. 76 This test provides a three-dimensional view of the eye components to document the present of abnormalities. Additional findings during an ophthalmologic visit may include iris transillumination, fundus hypopigmentation, presence of nystagmus, and decreased visual acuity.…”

Section: Ophthalmologic Examinationmentioning

confidence: 99%

Hermansky–Pudlak Syndrome

Rojas

Young

2020

Semin Respir Crit Care Med

View full text Add to dashboard Cite

Hermansky–Pudlak syndrome (HPS) is a multisystemic autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis, and lethal pulmonary fibrosis (PF) in some HPS subtypes. During middle adulthood, ground-glass opacities, reticulation, and traction bronchiectasis develop with progression of PF. HPS is an orphan disease occurring in 1 in 500,000 to 1,000,000 individuals worldwide, though the prevalence is 1 in 1,800 in individuals with Puerto Rican heritage. Recessive mutations or disruptions in HPS genes alter the function of HPS proteins which are components of biogenesis of lysosome-related organelle complexes and are critical for intracellular protein trafficking. Diagnosis and management of HPS-related comorbidities represent a challenge to physicians, and a multidisciplinary clinical approach is necessary for early detection, health management, and surveillance of PF in patients with HPS types 1, 2, and 4. Treatment options for individuals with HPS-PF include pirfenidone and lung transplantation. In this article, we describe the epidemiology, genetics, clinical manifestations, and management of HPS.

show abstract

“…Periodic alternating Nystagmus is always present in these patients. Strabismus is a common finding in all forms of albinism-esotropia or exotropia [15]. Our patient has periodic alternating nystagmus and exotropia.…”

Section: Discussionmentioning

confidence: 97%