Pattern Dystrophies

Güncel Retina Dergisi (Current Retina Journal) ◽

10.37783/crj-0261 ◽

2021 ◽

pp. 208-212

Keyword(s):

Visual Acuity ◽

Older Patients ◽

Autosomal Dominant ◽

Specific Treatment ◽

Dominant Inheritance ◽

Choroidal Neovascular Membrane ◽

Good Visual Acuity ◽

Retinal Atrophy ◽

Pigment Distribution ◽

Autosomal Dominant Inheritance Pattern

Pattern dystrophies have been known since 1950 which have autosomal dominant inheritance pattern. Pattern dystrophies have been classified based on the pattern of the pigment distribution. Despite significant retinal changes, good visual acuity is often maintained. However, complications such as choroidal neovascular membrane and retinal atrophy may develop in older patients and can significantly decrease visual acuity. There is no specific treatment, but when complications arise, treatment should be done by reason.

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Insight into the autosomal-dominant inheritance pattern of SOD1-associated ALS from native mass spectrometry

10.1101/2020.07.13.199976 ◽

2020 ◽

Author(s):

Jelena Cveticanin ◽

Tridib Mondal ◽

Elizabeth M. Meiering ◽

Michal Sharon ◽

Amnon Horovitz

Keyword(s):

Mass Spectrometry ◽

Autosomal Dominant ◽

Native Mass Spectrometry ◽

Autosomal Dominant Inheritance ◽

Coupling Constant ◽

Inheritance Pattern ◽

Wild Type ◽

Dominant Inheritance ◽

Mutant Sod1 ◽

Autosomal Dominant Inheritance Pattern

AbstractAbout 20% of all familial amyotrophic lateral sclerosis (ALS) cases are associated with mutations in superoxide dismutase (SOD1), a homodimeric protein. The disease has an autosomal-dominant inheritance pattern. It is, therefore, important to determine whether wild-type and mutant SOD1 subunits self-associate randomly or preferentially. A measure for the extent of bias in subunit association is the coupling constant determined in a double-mutant cycle type analysis. Here, cell lysates containing co-expressed wild-type and mutant SOD1 subunits were analyzed by native mass spectrometry to determine these coupling constants. Strikingly, we find a linear positive correlation between the coupling constant and the duration of the disease. Our results indicate that inter-subunit communication and a preference for heterodimerization greatly increase the disease severity.

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Bilateral Optic Disc Pit with Maculopathy Case Report

Czech and Slovak Ophthalmology ◽

10.31348/2019/2/5 ◽

2019 ◽

Vol 75 (2) ◽

pp. 86-90

Author(s):

Veronika Radošová ◽

Inka Krejčířová ◽

Rudolf Autrata ◽

Barbora Žajdlíková

Keyword(s):

Optic Nerve ◽

Optic Disc ◽

Autosomal Dominant ◽

Surgical Intervention ◽

Asymptomatic Patient ◽

Optic Disc Pit ◽

Dominant Inheritance ◽

Pars Plana ◽

Therapeutic Possibilities ◽

Autosomal Dominant Inheritance Pattern

An optic disc pit is a rare congenital anomaly of the optic nerve disc. It occurs rarely, and in case of its bilateral occurance, it can be caused by an autosomal dominant inheritance pattern. Ophthalmoscopically, the disc pit appears as an ovoid depression of the optic nerve disc. When identified unilaterally, the optic nerve disc is usually larger than the disc of the other healthy eye. Optic disc pits can be located anywhere in optic disc. Moreover, when located in the temporal margin, they can be accompanied by a maculopathy. The latest therapeutic possibilities include the retinal laser photocoagulation and pars plana vitrectomy, however the prognosis quoad visum neverthelles remains poor. This report deals with bilateral occurance of the optic disc pit in case of 9-year-old asymptomatic patient. The patient had been transferred to our ophthalmology department with suspected retinal detachment. Following the examination, the optic disc pit was diagnosed. The patient remains subject to further observation, however, owing to his current satisfactory vision without the need for a surgical intervention.

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Sotos Syndrome

Language Speech and Hearing Services in Schools ◽

10.1044/0161-1461.2701.91 ◽

1996 ◽

Vol 27 (1) ◽

pp. 91-93

Author(s):

Elaine M. Shuey ◽

Kristen Jamison

Keyword(s):

Bone Growth ◽

Autosomal Dominant ◽

Normal Development ◽

Learning Problems ◽

Facial Features ◽

Language Delays ◽

Sotos Syndrome ◽

Dominant Inheritance ◽

Specific Learning ◽

Autosomal Dominant Inheritance Pattern

Sotos syndrome is characterized by high birth length, rapid bone growth, distinctive facial features, and possible verbal and motor delays. It may be the result of an autosomal dominant inheritance pattern and it is more common in males than females. Developmental deficits or specific learning problems may be present. Speech and language delays may occur, although reported cases vary from normal development to severe delays. Hoarse voice is not uncommon.

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Genetic Screening Revealed Latent Keratoconus in Asymptomatic Individuals

Frontiers in Cell and Developmental Biology ◽

10.3389/fcell.2021.650344 ◽

2021 ◽

Vol 9 ◽

Author(s):

Shihao Chen ◽

Xing-Yong Li ◽

Jia-Jia Jin ◽

Ren-Juan Shen ◽

Jian-Yang Mao ◽

...

Keyword(s):

High Risk ◽

Refractive Surgery ◽

Autosomal Dominant ◽

Dominant Inheritance ◽

Disease Manifestation ◽

Chinese Families ◽

Mutational Screening ◽

Asymptomatic Individuals ◽

Preoperative Examination ◽

Autosomal Dominant Inheritance Pattern

PurposeTo adopt molecular screening in asymptomatic individuals at high risk of developing keratoconus as a combinative approach to prevent subclinical patients from post-refractive surgery progressive corneal ectasia.MethodsIn this study, 79 Chinese and nine Greek families with keratoconus were recruited, including 91 patients with clinically diagnosed keratoconus as well as their asymptomatic but assumptive high-risk first-degree relatives based on underlying genetic factor. Mutational screening of VSX1, TGFBI, and ZEB1 genes and full clinical assessment including Pentacam Scheimpflug tomography were carried out in these individuals.ResultsFive variants in VSX1 and TGFBI genes were identified in three Chinese families and one Greek family, and four of them were novel ones. Surprisingly, ultra-early corneal changes in Belin/Ambrosio Enhanced Ectasia Display of Pentacam corneal topography together with co-segregated variants were revealed in the relatives who had no self-reported symptoms.ConclusionsVariants of VSX1 and TGFBI genes identified in both the clinically diagnosed and subclinical patients may cause the keratoconus through an autosomal dominant inheritance pattern, with different variable expressivity. Combining genetic with Belin/AmbrosioEnhanced Ectasia Display can be used to identify patients with latent keratoconus. This study indicates that genetic testing may play an important supplementary role in re-classifying the disease manifestation and evaluating the preoperative examination of refractive surgery.

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Megacystis Microcolon Intestinal Hypoperistalsis Syndrome: Case Reports and Discussion of the Literature

Fetal Diagnosis and Therapy ◽

10.1159/000442050 ◽

2015 ◽

Vol 39 (2) ◽

pp. 152-157 ◽

Cited By ~ 9

Author(s):

Joana De Sousa ◽

Vipul Upadhyay ◽

Peter Stone

Keyword(s):

Autosomal Recessive ◽

Autosomal Dominant ◽

Case Reports ◽

Dominant Inheritance ◽

Genetic Studies ◽

Intestinal Dysmotility ◽

Autosomal Recessive Condition ◽

Hypoperistalsis Syndrome ◽

Autosomal Dominant Inheritance Pattern ◽

Viable Treatment

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare intestinal dysmotility condition that also involves a dilated urinary bladder. It was believed to be an autosomal recessive condition, but genetic studies have suggested possibly an autosomal dominant inheritance pattern. Prenatal diagnosis can be challenging, but MRI and amniotic fluid/digestive fluid studies may be complementary investigations to improve diagnostic accuracy. Prognosis of MMIHS is generally poor and treatment is mostly supportive. To date, bowel transplantation remains the only viable treatment to restore bowel motility. Here we present two additional cases to contribute towards the scant literature on this condition.

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