Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

NG Ghazi, EB Abboud, SR Nowilaty, H Alkuraya… - Human genetics, 2016 - Springer
MERTK is an essential component of the signaling network that controls phagocytosis in
retinal pigment epithelium (RPE), the loss of which results in photoreceptor degeneration …

[HTML][HTML] Idiopathic juxtafoveolar retinal telangiectasis: a current review

SR Nowilaty, HN Al-Shamsi… - Middle East African …, 2010 - journals.lww.com
Idiopathic juxtafoveolar retinal telangiectasis (IJFT), also known as parafoveal telangiectasis
or idiopathic macular telangiectasia, refers to a heterogeneous group of well-recognized …

[HTML][HTML] Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

N Patel, MA Aldahmesh, H Alkuraya, S Anazi… - Genetics in …, 2016 - nature.com
Purpose: Retinal dystrophies (RD) are heterogeneous hereditary disorders of the retina that
are usually progressive in nature. The aim of this study was to clinically and molecularly …

High-power handheld blue laser-induced maculopathy: the results of the King Khaled Eye Specialist Hospital Collaborative Retina Study Group

SM Alsulaiman, AA Alrushood, J Almasaud, S Alzaaidi… - Ophthalmology, 2014 - Elsevier
Purpose To report various types of maculopathy caused by momentary exposure to a high-
power handheld blue laser. Design Consecutive case series. Participants Fourteen eyes of …

The morbid genome of ciliopathies: an update

HE Shamseldin, R Shaheen, N Ewida… - Genetics in …, 2020 - nature.com
Purpose Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We
aim to characterize a large cohort of ciliopathies phenotypically and molecularly. Methods …

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos

N Patel, AO Khan, S Alsahli, G Abdel‐Salam… - Clinical …, 2018 - Wiley Online Library
Microphthalmia is a developmental eye defect that is highly variable in severity and in its
potential for systemic association. Despite the discovery of many disease genes in …

Biometric and molecular characterization of clinically diagnosed posterior microphthalmos

SR Nowilaty, AO Khan, MA Aldahmesh… - American Journal of …, 2013 - Elsevier
PURPOSE: To biometrically and molecularly characterize clinically diagnosed posterior
microphthalmos. DESIGN: Prospective case series. METHODS: Twenty-five affected patients …

Full-thickness macular hole secondary to high-power handheld blue laser: natural history and management outcomes

SM Alsulaiman, AA Alrushood, J Almasaud… - American journal of …, 2015 - Elsevier
Purpose To report the natural history and management outcomes of full-thickness macular
hole (MH) caused by momentary exposure to a high-power handheld blue laser device and …

[HTML][HTML] Neovascular glaucoma at king khaled eye specialist hospital–etiologic considerations

HN Al-Shamsi, DK Dueker, SR Nowilaty… - Middle East African …, 2009 - journals.lww.com
Background: Neovascular glaucoma (NVG) is a severe form of secondary glaucoma caused
by the growth of new vessels over the trabecular meshwork. The principal causes are …

Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos

MA Aldahmesh, SR Nowilaty, F Alzahrani… - Archives of …, 2011 - jamanetwork.com
Methods. Human Subjects. Patients were evaluated by 2 of us (SRN and AOK). To qualify,
patients had to have an abnormally short axial length of the globe as determined by …