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Microphthlmia

Disease Entity

Microphthalmos also called microphthalmia, is a severe developmental disorder of the eye in which one or both eyes are abnormally small and have anatomic malformations. Although microphthalmos and nanophthalmos (also called pure microphthalmos) have an eye small in sizer, nanophthalmos does not present anatomical malformations.[2]

Epidemiology

The birth prevalence of microphthalmia has been estimated to be 14/100.000 and affects 3-11% of blind children.[2][3][4][5] Microphthalmia is commonly bilateral and it does not present differences according to sex and race.[6][7]

Etiology

The precise pathogenesis of microphthalmia remains unknown. It was suggested that, during post-natal ocular growth, the decreased size of the optic cup, altered proteoglycans in the vitreous, low intraocular pressure, abnormal growth factor production and inadequate production of secondary vitreous may contribute to microphthalmia. Some cases of microphthalmia associated with a cyst may result from failure of the optic fissure to close.[8][9][10]

Environmental and heritable factors can contribute to microphthalmia. Environmental risk factors are maternal age over 40, multiple births, infants of low birth weight, low gestational age, gestational-acquired infections (rubella, toxoplasmosis, varicella, cytomegalovirus, parvovirus B19, influenza virus, and coxsackie A9), maternal vitamin A deficiency, fever, hyperthermia, exposure to X-rays, solvent misuse and exposure to drugs like thalidomide, warfarin and alcohol.[6][7][8][11][12][13][14][15] Most of cases of microphthalmos are sporadic, but autosomal dominant, autosomal recessive and X linked modes of inheritance have been described. Mutations in genes SOX2, OTX2, BMP4, CHD7, GDF6, RARB and SHH present an autosomal dominant inheritance pattern, while mutations in genes PAX6, STRA6, FOXE3, RAX, SMOC1, VSX2 are associated to autosomal recessive mode of inheritance and BCOR, HCCS and NAA10 mutations are associated to X-linked mode of inheritance.[16]

Clinical Diagnosis and Evaluation

Ocular Evaluation

Microphthalmia is defined by an eye with anatomical malformation and whose axial length is two standard deviations below the mean for age, what corresponds to an axial length below 21 mm in adult eyes.[17]

Ocular disorders may affect the anterior segment and/or the posterior segment. It may be associated with uveal coloboma, hence the general classification into colobomatous and non-colobomatous categories. Ocular abnormalities are microcornea, corneal opacification, corectopia, ectopia lentis, aniridia, cataract, persistent fetal vasculature and/or retinal dysplasia. Microphthalmia may be associated to an orbital cyst (tipically located in the inferior orbit) originated from the optic nerve where it usually communicates with the subarachnoid space.[17]

Visual acuity will depend on the type of ocular malformations and especially on the retinal involvement. A good visual acuity can be present in eyes with small iris or choroidal colobomas. However, eyes with macular and optic nerve head involvement have poor vision. 

Microphthalmic eyes are usually highly hypermetropic, but sometimes can be highly myopic because of staphyloma formation in the area of the coloboma.

Systemic Evaluation

Microphthalmia can be associated to mental retardation, craniofacial malformations (as cleft lip/palate or microcephaly) and malformations of hands and feet (polydactyly). This ocular disorder can occur in isolation or be syndromic (33-50%). Syndromes associated to Microphthalmia are CHARGE syndrome, Duker syndrome, Lenz microphthalmia syndrome, Oculo-Dento-Osseous Dysplasia, Cryptophthalmos syndrome, Cerebro-Oculo-Facial Syndrome, Goltz syndrome, Lowe syndrome, Meckel-Gruber syndrome, Basal cell nevus syndrome of Gorlin-Goltz, Cross syndrome and Microphthalmia with linear skin defects.[18]

Since Microphthalmia can be associated to these non-ocular anomalies, physical examination (including dysmorphology examination) is mandatory to determine the presence of distinguishing clinical features. 

Family history

As already mentioned, microphthalmia often exhibits a hereditary pattern and it is fundamental to complete eye examination of both parents and to obtain a three-generation family history of eye anomalies, including microphthalmia and coloboma.

Imaging

Ultrasound is most commonly used to determine the length of the globe in microphthalmic eyes and to make examination of the orbits.[17]

Magnetic resonance imaging (MRI) is extremely useful because there is higher resolution of the structures of interest and no radiation exposure. It shows a small and abnormal globe and it’s useful to orbital evaluation. If there is an orbital cyst, it produces a homogeneous signal that varies from isointense to hypointense on MRI T1-weighted image, while on T2-weighted image the cyst appears hyperintense and there is no enhancement with gadolinium.[17]

Electrophysiological tests are critical for assessing the severity of visual impairment and help to determine at which level the abnormality is. In cases of severe microphthalmia, a flash visual evoked potential (VEP) will establish if any visual function is present. A pattern VEP will determine the severity of the disease and detect any optic nerve dysfunction while an electroretinogram will identify if there is retinal dysfunction.[17]

Since microphthalmia can be associated with systemic anomalies, it is important to consider an endocrine evaluation, echocardiogram and renal ultrasound examination.

Management

Because of the variable phenotype spectrum associated to microphthalmia, patients should be evaluated by multidisciplinary teams composed by ophthalmologists, pediatricians, and clinical geneticists. If no syndrome is identified in childhood, further examination after three or four years should be performed as many syndromes become more apparent at this age.[2]

Medical therapy

If retinal function is detectable, refraction and treatment of any underlying amblyopia is critical.

Surgery

Microphthalmia leads to the appearance of hemifacial asymmetry due to a small orbital volume compared to age-matched controls. Reconstructive strategies aim simultaneous management of both soft tissue hypoplasia and asymmetric bone growth.[19][20][21]

If the axial length of the eye is over 16 mm, orbital growth is more likely to be normal. However, if the axial length is less than 16 mm, it is unlikely to promote normal orbital growth alone and it is necessary to increase the socket volume early on to prevent pronouncing asymmetry as the child grows.[17] Mild/moderate microphthalmia is generally managed conservatively with insertion of a conformer (like a prosthetic eye but not painted) while in severe microphthalmia is necessary to provide endo-orbital volume replacement using implants of progressively increasing size.[2][17]Orbital osteotomies are indicated in more severe cases. 

When an orbital cyst is present its expansion properties are harnessed, and surgery is postponed until it reaches 90% of the orbital volume, allowing removal for cosmetic reasons at about the time the child starts school.[2][17]

Prognosis

The potential for visual development depends on the ocular structures affected and the severity of the malformations. The treatment aims to maximize the existing vision and provide improvement at the aesthetic level.

Welcome International Prosthetic Eye Center

Your life-like Customized Artificial Eyes

We offered very natural looking artificial eyes!

In certain cases where normal eye is bulging forward, or have pain in the eyes with out Vision, these patient may under go for evisceration or enucleation with or with out use of orbital implant. The surgical procedure to remove the entire natural eye is referred to as an enucleation where as the surgical procedure to remove the contents of of a natural eye is referred to as evisceration.Both procedures will need prosthetic restoration with the fitting of an artificial eye. This process can usually begin approximately six weeks following the initial surgery.

Fitting the artificial eye begins with a board certified ocularist taking an impression mold of the surgically repaired eye socket or residual eye. This procedure ensures each patient attains the maximum amount of comfort and movement possible.

Our team of board certified ocularists have developed advanced art and sculpting techniques to recreate artificial eyes with life-like and natural appearance. These techniques are focus on carefully matching eyelid contours, eyelid folds, and other features involved in achieving facial symmetry. We make every effort to maximize the amount of movement and to recreate an exact color match to your natural eye.

At International Prosthetic Eye Center, we utilize a combination of digital photography and hand painted technques to replicate the color and details of your eye. Only natural earth pigments are used in the painting of our artificial eyes. These pigments provide exquisite detail, depth of color, and vibrancy for the life of your artificial eye.  

TOP EXPERT IN INDIA 

EXPERT IN DEALING Microphthalmia TREATMENT 

Team is highly qualified and very passionated to care for you at every step of providing care. 

Kuldeep Raizada, Ph D BCO, BADO, FAAO

Kuldeep Raizada is a Licensed Ocularist in Hyderabad, a Board Certified Ocularist (BCO)  from National examination Board of ocularist’s, USA and a Board Approved Diplomate Ocularist (BADO) from American Society of ocularist’s, specializing in ocular prosthetics since 2001, Kuldeep places his emphasis on the satisfaction and well-being of every patient. His clinical  skill and expertise are equally matched by his personalized care for patients and attention to detail.

Kuldeep Raizada completed his basic optometry education at Gandhi Eye Hospital, Aligarh, and has his training at L V Prasad Eye Institute, Hyderabad. where he was also Founder and Head of the Department of Ocular Prosthesis services till 2009. He completed a second fellowship, in Anaplastolgy, at MD Anderson Cancer Centre, Houston. He has also been trained by the top most ocularist and anaplastologist in United States of America.

His clinical interests include ocular and facial prosthesis, particularly in pediatric patients. His research interests lie in newer advancement in development of new types of prosthesis, newer solution for ptosis corrective glasses. 

Kuldeep Raizada, is Founder & Director of the International Prosthetic Eye Center since 2010, where he is practicing since 2010.

Kuldeep Raizada has been recognized by the American Society of Ocularist, USA and American Anaplastology Association,USA and by several other professional organizations, for his excellence in research and clinical practice.

Kuldeep Raizada, have completed all requirements by American Society of Ocularist, which is hard work of 14000 working hours as well extensive study for prosthetics, Hence awarded the Diplomate Ocularist from American Society of Ocularist, USA, 2012, Chicago, USA, which is the First ever received all over Asia Pacific & throughout Middle East so ever. 

 At present he is reviewer of several journals like Contact Lens & Anterior Eye, International Journal of Anaplastology, Oculoplasty & Reconstructive  Surgery (OPRS) and Many others. He has published and presented world widely.

Fact About Kuldeep

  • CEO & Chairman of Akriti

  • Founder & Director International Prosthetic Eye Center, India

  • Founder of Healthcare India Magazine

  • Receipt of Abdul Kalam Award.

  • First ever Indian to received  Board Certifications, from National Board of examination of ocularist, USA, He was the first One all over Asia Pacific & throughout Middle East.

  • Developed First Digital Dynamic Facial Eye Prosthesis

  • Developed physiological Near Stereo test 

  • Developed physiological Distance Stereo test 

  • Developed ETDRS Log Mar Vision Charts in Hindi for 4 Meters

  • Developed ETDRS Log Mar Vision Charts in Telegu for 4 Meters 

  • Developed ETDRS Log Mar Vision Charts in Assamese  for 4 Meters 

  • Developed ETDRS Log Mar Vision Charts in Arabic for 4 Meters 

  • Developed ETDRS Log Mar Vision Charts in Bangla for 4 Meters 

  • Developed ETDRS Log Mar Vision Charts in Tamil for 4 Meters 

  • Developed ETDRS Log Mar Vision Charts in Oriya  for 4 Meters 

  • Developed ETDRS Log Mar Vision Charts in Kannada for 4 Meters

  • Developed ETDRS Log Mar Vision Charts in Malayalam for 4 Meters 


Deepa D Raizada, MS, BCA, BCO, BCCA 

Deepa completed her diploma and clinical fellowship in optometry at L V Prasad Eye Institute, India, in 2003, pursued her graduation from Madhurai Kamraj University, 2006.

She had completed her Master of Science (M Sc)  in “Maxillofacial and Craniofacial Technology” (2010-2012), King’s Collage London, UK where she was trained to work exclusively  in the field of Maxillofacial Prosthetics.

Deepa is also an associate Member of The Institute of Maxillofacial Prosthetist & Technologist, UK  (AIMPT) since 2014. & Active Member of International Anaplastology Association, (IAA) USA  since 2009.

Deepa Have make a remarkable success in becoming "Asia's First Board Certified Clinical Anaplastologist ( BCCA") and Bring glory for India as to Make India Fifth Nation to have a Board Certified  Clinical Anaplastologist.

She Did complete her Board Certification for Ocularist (BCO), By National Examination Board of ocularist, USA in March 2018 

She persued her basic training in Ocularistry from L V Prasad Eye Institute, Hyderabad and advanced training in Ocular Prosthetics (May – July, 2005) at Moorefield’s Eye Hospital, London, UK under Mr Nigel Saap. 

She worked as an Ocularist at Ocular Prosthesis Department, L V Prasad Eye Institute from 2003 – 2010. She worked with different type of techniques, developed new techniques in the fabrication and fitting of ocular & facial Prostheses. Her  work was well recognized and appreciated.

Her clinical interest include make her career in the art and science of facial prosthetics and ocular prosthetics, particularly in pediatric patients. Her research interests lie in developing new techniques in the field of facial prosthetics, and undertake research on materials used in this field.

Deepa Raizada has been recognized by the Oculoplasty Society of India, Indian Optometric Association and by several other professional organizations in India as well as Internationally, for her excellence in research and clinical practice.

Email ID: deepadraizada@gmail.com, deepaocularist@gmail.com

Fact about Deepa Raizada:

  1. She is the  First Indian Lady to be American Board Certified Ocularist  (BCO) as well as Board Certified Clinical Anaplastogist (CCA).

  2. Her credentials are unmatched with any one from Asia, Middle East, Africa &  Europe. First Ever Indian Lady to be American Board Certified Ocularist  (BCO) 2018 

  3. First Ever Indian Lady to received Her Board Certification in Clinical Anaplastology (CCA) 3rd Individual in the World to have CCA and BCO, (Other 2 in USA) 

  4. She bring the glory  to India for bringing the First Ever CCA &  made a land mark for India to 5th country in the world.