1. Ophthalmic Genet. 2015 Sep 2:1-7. [Epub ahead of print]

Role of MMP-2 (-1306 C/T) Polymorphism in Age-Related Macular Degeneration.

Liutkeviciene R(1), Lesauskaite V, Zaliaduonyte-Peksiene D,
Sinkunaite-Marsalkiene G, Zaliuniene D, Mizariene V, Gustiene O, Jasinskas V,
Tamosiunas A.

Author information: 
(1)a Department of Ophthalmology .

PURPOSE: To determine if the frequency of the MMP-2 (-1306 C/T) genotype has an
influence on the development of early age-related macular degeneration (AMD).
METHODOLOGY: The study enrolled 387 patients with early AMD and a random sample
of 682 healthy persons (control group). The genotyping of MMP-2 (-1306 C/T) was
carried out using the real-time polymerase chain reaction method.
RESULTS: The analysis of the MMP-2 (-1306 C/T) gene polymorphism did not reveal
any differences in the genotype distribution between the patients with AMD and
the control subjects. When the study population was divided into age groups, the 
C/C genotype was more prevalent in the AMD patients aged <65 years than those
aged ≥65 years (65.19% versus 53.88%, p = 0.0294), and the C/T genotype was more 
frequent in the AMD patients aged ≥65 years when compared with the AMD patients
aged <65 years (40.78% versus 26.52%, p = 0.0037). Moreover, in the female group 
younger than 65 years, the frequency of the C/C genotype was greater in the AMD
group than the control group (75% versus 58.91%, p = 0.0232).
CONCLUSIONS: This study showed a significantly greater prevalence of the C/C and 
C/T genotypes in the patients with AMD younger than 65 years and those aged ≥65
years, respectively. Moreover, the AMD women aged <65 years were the carriers of 
the C/C genotype significantly more frequently than their control counterparts.

PMID: 26333112   [PubMed - as supplied by publisher]


2. Ophthalmic Genet. 2015 Sep 2:1-11. [Epub ahead of print]

Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal
Recessive Bestrophinopathy.

Wivestad Jansson R(1), Berland S, Bredrup C, Austeng D, Andréasson S, Wittström
E.

Author information: 
(1)a Department of Clinical Medicine , Section of Ophthalmology, University of
Bergen , Bergen , Norway .

PURPOSE: To describe the genotype and phenotype of patients with autosomal
recessive bestrophinopathy (ARB), and heterozygous carriers.
METHODS: The members of three unrelated ARB families were investigated. Molecular
genetic analysis was performed on 11 members of these families. Ten members were 
examined clinically; including visual acuity, slit-lamp examination,
biomicroscopy, fundus photography, and Goldmann applanation tonometry.
Measurements were also made of the anterior chamber depth and axial length, and
optical coherence tomography (OCT), electrooculography (EOG), and full-field
electroretinography (full-field ERG) were performed. Multifocal
electroretinography (mfERG) was performed on eight members of these families.
RESULTS: Two novel combinations of missense mutations in the BEST1 gene were
identified: p.R141H/p.M325T in three patients with ARB in two unrelated Norwegian
families, and p.R141H/p.I201T was found in an ARB patient in a Swedish family.
All four patients with ARB had clinical and electrophysiological features of ARB.
All the heterozygous carriers of the p.R141H mutation were clinically normal, and
showed normal OCT, EOG and full-field ERG findings, but had mildly abnormal mfERG
results. Only one heterozygous carrier of the p.M325T mutation was studied and he
was clinically normal, showing normal OCT and full-field ERG results, but
subnormal EOG and mfERG findings. The heterozygous carrier of the p.I201T
mutation was clinically normal, showing normal OCT, EOG and full-field ERG
results, but subnormal mfERG results.
CONCLUSIONS: We have shown that the two novel combinations of compound
heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can 
also lead to the ARB phenotype.

PMID: 26333019   [PubMed - as supplied by publisher]


3. Ophthalmic Genet. 2015 Sep 2:1-6. [Epub ahead of print]

Risk Factors for Second Eye Involvement in Eyes with Unilateral Polypoidal
Choroidal Vasculopathy.

Tateno Y(1), Sakurada Y, Yoneyama S, Kikushima W, Mabuchi F, Sugiyama A, Tanabe
N, Kubota T, Iijima H.

Author information: 
(1)a Departments of Ophthalmology and.

PURPOSE: To investigate risk factors associated with developing polypoidal
choroidal vasculopathy (PCV) lesions in the unaffected fellow eye of patients
with unilateral PCV.
METHODS: We studied 179 patients with initial unilateral PCV who were followed up
for a period of 24 months or longer to monitor for second eye involvement. All
patients underwent genotyping for CFH I62V (rs800292) and ARMS2 A69S (rs10490924)
using TaqMan technology.
RESULTS: During the follow-up period ranging from 5-180 months, 20 (11.2%) of 179
patients developed PCV in the initially unaffected fellow eye. The risk allele
(T) of ARMS2 A69S was significantly more prevalent in patients with second eye
involvement compared to those without PCV in the fellow eye (p = 0.0046). Cox
regression analysis demonstrated that the ARMS2 A69S genotype is a risk factor
for developing PCV in the fellow eye (p = 0.027, odds ratio 2.53, confidence
interval 1.11-5.73). Survival analysis revealed that the fellow eye of patients
with the risk-associated homozygous genotype (TT) of ARMS2 A69S was affected
significantly earlier than those with other genotypes (p = 0.0177, log rank
test).
CONCLUSIONS: Development of PCV in the unaffected fellow eye is associated with
ARMS2 A69S genotype in patients with unilateral PCV.

PMID: 26332911   [PubMed - as supplied by publisher]


4. Ophthalmic Genet. 2015 Sep 2:1-3. [Epub ahead of print]

Association between the CDKN2B-AS1 Gene and Primary Open Angle Glaucoma with High
Myopia in Japanese Patients.

Kimura Y(1), Akagi T, Miyake M, Yamashiro K, Yoshikawa M, Yamada H, Hasegawa T,
Suda K, Nakanishi H, Ohashi-Ikeda H, Gotoh N, Hangai M, Moriyama M, Ohno-Matsui
K, Yoshimura N.

Author information: 
(1)a Department of Ophthalmology and Visual Sciences , Kyoto University Graduate 
School of Medicine , Kyoto , Japan and.

PMID: 26332839   [PubMed - as supplied by publisher]


5. Ophthalmic Genet. 2015 Sep 2:1-11. [Epub ahead of print]

Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type 
IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene.

Wilkin J(1), Kerr NC, Byrd KW, Ward JC, Iannaccone A.

Author information: 
(1)a Hamilton Eye Institute, Department of Ophthalmology and.

PURPOSE: To report longitudinal phenotypic findings in a patient with Sanfilippo 
syndrome type IIIA, harboring SGSH mutations, one of which is novel.
METHODS: Heparan-N-sulfatidase enzyme function testing in skin fibroblasts and
white blood cells and SGSH gene sequencing were obtained. Clinical office
examinations, examinations under anesthesia, electroretinogram, spectral domain
optical coherence tomography (SD-OCT), and fundus photography were performed over
a 5-year period.
RESULTS: Fundus examination revealed a progressive breadcrumb-like pigmentary
retinopathy with perifoveal pigmentary involvement. SD-OCT showed loss of normal 
neuroretinal lamination and cystic macular changes responsive to treatment with
carbonic anhydrase inhibitors. Electroretinography exhibited complex
characteristics indicative of a generalized retinal rod > cone dysfunction with
significant ON > OFF postreceptoral response compromise. Sequencing revealed
compound heterozygous mutations in the SGSH gene, the novel c.88G > C (p.A30P)
change and a second, previously reported one (c.734G > A, p.R245H).
CONCLUSIONS: We have identified ocular features of a patient with Sanfilippo
syndrome type IIIA harboring a novel SGHS mutation that were not previously known
to occur in this disease - namely, a progressive retinopathy with distinctive
features, cystic macular changes responsive to carbonic anhydrase inhibitors, and
complex electroretinographic abnormalities consistent with postreceptoral
dysfunction. SD-OCT imaging revealed retinal lamination changes consistent with
previously reported histologic studies. Both the SD-OCT and the electroretinogram
changes appear attributable to intraretinal deposition of heparan sulfate.

PMID: 26331342   [PubMed - as supplied by publisher]


6. Ophthalmic Genet. 2015 Sep 2:1-3. [Epub ahead of print]

Ocular Alterations in a Rare Case of Segmental Neurofibromatosis Type 1 with a
Non-Classified Mutational Variant of the NF-1 Gene.

Abdolrahimzadeh S(1), Piraino DC, Plateroti R, Scuderi G, Recupero SM.

Author information: 
(1)a Ophthalmology Unit, DAI Testa/Collo, Azienda Policlinico Umberto I,
University of Rome "Sapienza" , Rome , Italy and.

BACKGROUND: Neurofibromatosis type 1 (NF-1) is an autsomal dominant disorder
which can occasionally result from somatic mosaicism and manifest as segmental
forms of the disease.
METHODS: A 37-year-old woman with ascertained NF-1, based on clinical diagnostic 
criteria and genetic analysis, was referred for ophthalmological evaluation.
Genetic analysis, magnetic resonance imaging (MRI), complete ophthalmological
examination, and near infrared reflectance (NIR) images at 815 nm of the retina
were obtained.
RESULTS: Genetic analysis revealed a non-classified mutational variant of the
NF-1 gene identified as NM_000267.3:c2084T > C (p.Leu695Pro.T). MRI demonstrated 
non-symptomatic bilateral optic nerve gliomas. The only cutaneous sign was a
subcutaneous neurofibroma of the posterior cervical region. Slit-lamp examination
showed bilateral Lisch nodules. NIR images of the retina did not show any
choroidal hamartomas.
DISCUSSION: We report a rare case of segmental neurofibromatosis with a
non-classified mutational variant of the NF-1 gene described in only one previous
case in the literature. The patient presented with clinical features of NF-1
localized to the head and neck region, compatible with diagnosis of segmental
NF-1. Interestingly, ocular manifestations included bilateral optic nerve gliomas
and Lisch nodules, but no choroidal hamartomas.

PMID: 26331193   [PubMed - as supplied by publisher]