Megalocornea-mental retardation syndrome: Rare but can be there
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We report a case study of a 10-year-old male who had megalocornea with mental retardation (Neuhäuser syndrome). Megalocornea-mental retardation is a rare syndrome with a few cases reported in literature. The patientwith megalocornea-mental retardation requires a thorough systemic examination.
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References
1. Aviña-Fierro J, Hernández-Aviña D. Síndrome de Neuhauser: su
fenotipo facial dismórfico [Neuhauser syndrome: the facial dysmorphic
phenotype]. Rev Med Inst Mex Seguro Soc. (2016) 54:106–8.
2. Gutiérrez-Amavizca B, Juárez-Vázquez C, Orozco-Castellanos R, Arnaud
L, Macías-Gómez N, Barros-Nuñez P. Neuhauser syndrome: a rare
association of megalocornea and mental retardation. Review of the
literature and further phenotype delineation. Genet Couns. (2013)
24:185–91.
3. Verloes A, Journel H, Elmer C, Misson J, Le Merrer M, Kaplan J, et al.
Heterogeneity versus variability in megalocornea-mental retardation
(MMR) syndromes: report of new cases and delineation of 4 probable
types. Am J Med Genet. (1993) 46:132–7. doi: 10.1002/ajmg.1320460206
4. Davidson A, Cheong S, Hysi P, Venturini C, Plagnol V, Ruddle J,
et al. Association of CHRDL1 mutations and variants with x-linked
megalocornea, neuha äuser syndrome and central corneal thickness. PLoS
One. (2014) 9:e104163. doi: 10.1371/journal.pone.0104163
5. Santolaya J, Grijalbo A, Delgado A, Erdozaín G. Additional case
of Neuhäuser megalocornea and mental retardation syndrome with
congenital hypotonia. Am J Med Genet. (1992) 43:609–11. doi: 10.1002/
ajmg.1320430321
6. Moshirfar M, Hastings J, Ronquillo Y. Megalocornea. StatPearls
[Internet]. Treasure Island, FL: StatPearls Publishing (2021).](data:image/gif;base64,R0lGODlhAQABAIAAAAAAAP///yH5BAEAAAAALAAAAAABAAEAAAIBRAA7)
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The document discusses schizophrenia, outlining its definition, incidence, etiology, prognostic factors, and clinical features. Schizophrenia is a mental disorder characterized by abnormalities in perception or expression of reality such as hallucinations or delusions. It typically onset in late adolescence or early adulthood. Both genetic and environmental factors can contribute to its development. Prognosis is better for those who are older, have shorter durations of illness, and have strong social support systems.
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2) Epilepsy type - Focal, generalized, combined, or unknown.
3) Epilepsy syndrome - Specific diagnoses incorporating etiology, seizure types, EEG and imaging features.
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C034018022
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Massive Non-Encephalitic Neurocysticercosis
José L. Ruiz-Sandoval, Guadalupe Ramírez-Guzmán,
Erwin Chiquete and Ángel Vargas-Sánchez
A 45-year-old garbage collector was referred to our department
with a history of tonic-clonic seizures and risky
sexual behavior (anilingus). A neurological examination was
normal. Contrast-enhanced cranial CT showed calcified lesions
and viable parasites compatible with a diagnosis of
massive non-encephalitic neurocysticercosis. Oral metallic
implants impeded performing brain MRI. Hepatitis and HIV
serologies were negative. The patient was discharged with
steroids and an anticonvulsant. Delayed cysticidal therapy
was planned; however, albendazole therapy was immediately
initiated in another hospital, which led to brain edema, uncontrolled
seizures, rostrocaudal deterioration and death.
Cestoda infections are rare in developed countries (1). In
contrast, neurocysticercosis is a leading cause of adult-onset
epilepsy in Latin America. Massive infections are classified
as encephalitic or non-encephalitic (2). In patients with the
encephalitic presentation, cysticidal drugs can cause extensive
parasite lysis and aggravate brain inflammation (2). In
patients with non-encephalitic massive neurocysticercosis,
cysticidal therapy is usually considered; (2) however, rapid
initiation of antiparasitic medications can launch an encephalitic
process.
Acute Disseminated Encephalomyelitis
Acute disseminated encephalomyelitis (ADEM) is an immune-mediated demyelinating disorder of the central nervous system characterized by an acute onset of neurological symptoms such as encephalopathy and multifocal neurological deficits. It predominantly affects children and typically presents as a monophasic illness following a viral infection or vaccination. Diagnosis requires clinical presentation along with MRI evidence of multifocal white matter lesions and ruling out alternative causes. Treatment involves high-dose corticosteroids, with most patients making a full recovery, though some experience long-term cognitive deficits.
Declan Bennett 4th Year Project
This document is a research project report on analyzing genes involved in both memory formation and schizophrenia risk. The student examined the overlap between differentially expressed genes in memory formation in mice and genes located in schizophrenia risk loci. Regression analysis was performed on genotype and cognitive test scores in a large Irish dataset to analyze the effect of schizophrenia risk SNPs on cognition. Two genes showed association with memory tasks and three genes showed association with wider cognitive functions like social cognition and attention. The findings indicate these genes may have implications for the pathology of schizophrenia upon replication.
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Aim: This case study demonstrates the management options for fusional vergence dysfunction (FVD) and
uncorrected myopia.
Background: Binocular vision disorder with abnormalities in fusional vergence dynamics is referred to as “fusional
vergence dysfunction (FVD).” A patient with FVD has asthenopic symptoms, no refractive error, healthy eyes,
normal accommodative functions, a normal accommodative convergence/accommodation ratio, and normal
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Smartphone – a third eye of people with blindness
In the current plethora of the digital world, smartphones
have become an integral part of our lives and act as an
essential supportive device in executing daily living activities.
Until now, most of us believe that smartphones are devices
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Accommodative facility and vergence facility after mobile gaming
Aim: This study aimed to access the changes of accommodation and vergence before and after mobile gaming.
Settings and Design: This was a comparative study conducted in the outpatient department of ophthalmology.
Accommodative facility and vergence facility were measured using flippers.
Materials and methods: A comparative study was conducted on 50 healthy subjects, in both males and females,
with age groups ranging between 18 and 30 years. This study has been approved by the IRB Committee; 25 young
emmetropic patients and 25 young myopic patients were included. The comparison of accommodative facility
and vergence facility before and after mobile gaming for 1 h was measured to determine the level of changes
in accommodation and vergence. All patients were undergone comprehensive ophthalmic examination including
vision, subjective/objective refraction, anterior segment examination, and accommodative and vergence facilities
measured using accommodative and vergence flippers.
Results: The mean and standard deviation value significantly increase before and after mobile gaming in the right
eye, left eye, and both eyes in case of accommodation facility, and there is a decrease in the mean and standard
deviation value in case of vergence facility in both eyes before and after mobile gaming.
Conclusion: The mean and standard deviation value significantly increase before and after mobile gaming in the
right eye, left eye, and both eyes in case of accommodative facility, and there is a decrease in the mean and standard deviation value in case of vergence facility in both eyes before and after mobile gaming.
Phenotypic analysis of a case of “3MC syndrome” with review of literature
3MC syndrome is a very rare entity. Its prevalence is unknown, but most cases are reported from the Middle East.
The first case was reported in 1978 and named as Michels syndrome, and recently, with other three syndromes
together, these syndromes are named as 3MC syndrome. All are autosomal recessive disorders and have been
reported by both consanguineous and non-consanguineous parents. Here, we phenotypically analyzed a case presented with the features of blepharophimosis syndrome associated with craniosynostosis suggestive of Michel syndrome, which is a part of the “3MC syndrome.”
A case of Alport syndrome presented with bilateral anterior lenticonus
Purpose: The aim of this study was to report a rare case of Alport syndrome presented with bilateral anterior
lenticonus in a 16-year-old boy.
Case report: A 16-year-old boy presented with decreased vision, a hearing defect, anemia, and proteinuria. His
best corrected visual acuity was 6/18 in both eyes. Slit lamp biomicroscope showed anterior lenticonus in both
eyes. He was managed by correction of refractive error and urgent referral to a nephrologist.
Conclusion: It is easy to diagnose Alport syndrome clinically, and close communication among ophthalmologists,
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Smoking and alcoholism: Risk factors for papillitis?
Introduction: Papillitis is the inflammation of the optic nerve at the level of the optic papilla or optic disc. We did
not find enough published studies that corroborate smoking and alcoholism as absolute risk factors for papillitis;
however, it has been raised, so we were motivated to conduct this research, with the aim of identifying a statistically
significant causal association between these factors and papillitis in our hospital.
Methodology: An analytical study of cases and controls was carried out in patients with papillitis treated at the
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interval (CI): [0.74; 3.48], but p > 0.05. Alcoholism with papillitis resulted in an association with OR = 1.19, with CI:
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Neonatal herpes zoster ophthalmicus: Two rare cases
Two neonates, one 15 days old and another 20 days old, presented with redness, eye watering, periocular and lid
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ciliary and conjunctival congestion, chemosis, and hazy cornea due to stromal edema. Although herpes zoster is
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Megalocornea-mental retardation syndrome: Rare but can be there
- 1. BOHR International Journal of Current Research in Optometry and Ophthalmology 2022, Vol. 1, No. 1, pp. 1–2 DOI: 10.54646/bijcroo.2022.01 www.bohrpub.com METHODS Megalocornea-mental retardation syndrome: Rare but can be there Anubhav Chauhan*, Deepak Kumar Sharma and Pankaj Kumar Thakur Department of Ophthalmology, Shri Lal Bahadur Shastri Government Medical College and Hospital, Nerchowk, Mandi, Himachal Pradesh, India *Correspondence: Anubhav Chauhan, chauhan.anubhav2@gmail.com Received: 20 December 2021; Accepted: 27 December 2021; Published: 08 January 2022 We report a case study of a 10-year-old male who had megalocornea with mental retardation (Neuhäuser syndrome). Megalocornea-mental retardation is a rare syndrome with a few cases reported in literature. The patient with megalocornea-mental retardation requires a thorough systemic examination. Keywords: Introduction Neuhäuser syndrome is an extremely rare genetic disease, in which the specific cause is unknown and there is no diagnostic test. The diagnosis in childhood is usually performed by oculo-neurological criteria (1). Case report A 10-year-old male was referred to us from department of pediatrics for routine ocular examination. He was diagnosed with mild mental retardation. There was no significant medical, surgical, family, traumatic, or drug abuse history. Ocular examination was carried out, and his visual acuity was 6/6 in both the eyes. Ocular movements, fundus, and intraocular pressure were normal bilaterally. Slit-lamp/torch examination revealed bilateral corneal diameter of 13 mm (megalocornea) (Figure 1). Keratometry, optical coherence tomography, and B-scan ultrasonography were within the normal limits. Later, a diagnosis of megalocornea-mental retardation (MMR) syndrome was found. No further intervention was done from ophthalmology side. Discussion Megalocornea can be defined as an isolated abnormality inherited by an X-linked mechanism, or it can be associated with other entities (2). Megalocornea (corneal diameter ≥ 13 mm) is associated with mental and neurological impairment and minor anomalies in Neuhäuser syndrome (MMR syndrome) (3). Megalocornea is a defining feature of Neuhäuser syndrome. The genetic cause of this syndrome is currently unknown. The majority of reported cases are associated with an autosomal recessive mode of inheritance (4). Megalocornea, mental retardation, and, presumably, hypotonia are the major manifestations for diagnosis (5). Various conditions associated with megalocornea are Axenfeld-Rieger syndrome, Peters anomaly, primary congenital glaucoma, aniridia, congenital hereditary endothelial dystrophy, sclerocornea, Frank-ter Haar syndrome, buphthalmos, Crouzon syndrome, Marfan syndrome, albinism, Ritscher-Schinzel syndrome, Wolfram- like syndrome, Lamellar ichthyosis, and osteogenesis imperfecta (6). 1
- 2. 2 Chauhan et al. FIGURE 1 | References 1. Aviña-Fierro J, Hernández-Aviña D. Síndrome de Neuhauser: su fenotipo facial dismórfico [Neuhauser syndrome: the facial dysmorphic phenotype]. Rev Med Inst Mex Seguro Soc. (2016) 54:106–8. 2. Gutiérrez-Amavizca B, Juárez-Vázquez C, Orozco-Castellanos R, Arnaud L, Macías-Gómez N, Barros-Nuñez P. Neuhauser syndrome: a rare association of megalocornea and mental retardation. Review of the literature and further phenotype delineation. Genet Couns. (2013) 24:185–91. 3. Verloes A, Journel H, Elmer C, Misson J, Le Merrer M, Kaplan J, et al. Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types. Am J Med Genet. (1993) 46:132–7. doi: 10.1002/ajmg.1320460206 4. Davidson A, Cheong S, Hysi P, Venturini C, Plagnol V, Ruddle J, et al. Association of CHRDL1 mutations and variants with x-linked megalocornea, neuha äuser syndrome and central corneal thickness. PLoS One. (2014) 9:e104163. doi: 10.1371/journal.pone.0104163 5. Santolaya J, Grijalbo A, Delgado A, Erdozaín G. Additional case of Neuhäuser megalocornea and mental retardation syndrome with congenital hypotonia. Am J Med Genet. (1992) 43:609–11. doi: 10.1002/ ajmg.1320430321 6. Moshirfar M, Hastings J, Ronquillo Y. Megalocornea. StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing (2021).