[HTML][HTML] Anophthalmia and microphthalmia

AS Verma, DR FitzPatrick - Orphanet journal of rare diseases, 2007 - Springer
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the
presence of a small eye within the orbit. The combined birth prevalence of these conditions …

Imaging of pediatric orbital diseases

BA Vachha, CD Robson - Neuroimaging Clinics, 2015 - neuroimaging.theclinics.com
The wide spectrum of orbital disease seen in children differs substantially from that found in
adults in terms of histopathologic and imaging features. Clinical symptoms and signs such …

[HTML][HTML] The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti

S Minić, N Cerovac, I Novaković, S Gazikalović… - Diagnostics, 2023 - mdpi.com
Incontinentia pigmenti (IP) is a rare skin disease combined with anomalies of the teeth, eyes,
and central nervous system (CNS). Mutations of the IKBKG gene are responsible for IP …

Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia

W Akbar, A Ullah, N Haider, S Suleman… - The Journal of Gene …, 2024 - Wiley Online Library
Background Anophthalmia and microphthalmia are severe developmental ocular disorders
that affect the size of the ocular globe and can be unilateral or bilateral. The disease is found …

Systemic and ophthalmological anomalies in congenital anophthalmic or microphthalmic patients

MP Schittkowski, RF Guthoff - British journal of ophthalmology, 2010 - bjo.bmj.com
Introduction Congenital anophthalmos and microphthalmos are reported to occur in 1–
20/100 000 newborn infants. The conditions may be characterised by associated pathology …

Long term follow‐up of axial length and orbital dimensions in congenital microphthalmia and anophthalmia

ALW Groot, P de Graaf, JS Remmers… - Acta …, 2024 - Wiley Online Library
Purpose To evaluate axial length (AL), orbital width (OW) and height (OH) development in
congenital microphthalmia and anophthalmia (MICA) using serial ultrasonography …

Long-term outcomes after cosmetic customized prostheses and dermis fat graft in congenital anophthalmia: a retrospective multicentre study

AC Modugno, AG Resti, G Mazzone, C Moretti… - Eye, 2018 - nature.com
Purpose To evaluate long-term outcomes of progressively enlarging cosmetic customized
prostheses (CCP) early after birth followed by dermis fat graft (DFG), as a strategy of socket …

Congenital cystic eye: features on MRI

R Gupta, A Seith, B Guglani… - The British journal of …, 2007 - academic.oup.com
Congenital cystic eye is a rare cause of cystic orbital lesion. The condition is recognized at
birth as a large orbital mass in place of a normal eye. Only 29 cases have been reported …

[HTML][HTML] A rare case of anophthalmia without any family history and antenatal risk factors

K Dedushi, F Hyseni, J Musa, K Saliaj, V Vokshi… - Radiology Case …, 2021 - Elsevier
Anophthalmia is a rare genetic disorder. It is defined as the absence of one or both eyes in a
patient. It can be unilateral or bilateral. Based on the absence of anatomical structures, it is …

[HTML][HTML] Bilateral anophthalmia with septo-optic dysplasia

M Jana, S Sharma - Oman Journal of Ophthalmology, 2010 - journals.lww.com
Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even
rare condition. The condition is characterized by absent eyeballs in the presence of eyelids …