A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance – Hammar – 2008 – Acta Ophthalmologica

A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance - Hammar - 2008 - Acta Ophthalmologica

Prevention and self-management Any changes in the appearance of the eyes or vision should be investigated further. RCE syndrome may occur secondary to corneal injury or spontaneously. The market has seen expansion from yearly and two-week soft lenses and small-diameter RGPs to daily, monthly standard, and silicone hydrogels and small, medium, and scleral RGPs. Corneal neovascularization is a reaction to the cornea not getting enough oxygen from the air. Eye disorders may include any of the following: vision problems, including astigmatism (vision difficulties due to a football-shaped cornea), diabetic retinopathy, myopia (nearsightedness), or hyperopia (farsightedness); conjunctivitis (inflammation of the conjunctiva); uveitis (inflammation of the uvea); keratitis (inflammation of the cornea); xerophthalmia (dry eye); glaucoma (an increase in intraocular pressure); age-related macular degeneration; and cataract (an opacity that develops in the crystalline lens of the eye). The symptoms were described as early as at 8 months of age, and by the age of 5 the majority of the affected individuals suffered from recurrent corneal erosions. The pain may be particularly uncomfortable in the morning upon awakening because the eyes naturally get dry at night, and the eyelid can stick slightly to the epithelium.

Please see individual Natural Standard condition monographs on glaucoma, cataracts, retinopathy, and macular degeneration for more information on these eye disorders. Signs and symptoms Vision problems: Symptoms of vision problems include vision loss, altered eye movements, eye pain, visual field loss, bulging eyes, double vision, and headaches. Herpes Zoster Keratitis (Shingles) Herpes Zoster Keratitis is actually caused by the same virus that causes chicken pox, called Varicella-Zoster Virus. Just contact lens carrier which does not adequately maintain their lenses and too long, have a high risk to develop a Ulcus corneae. This disorder was not genetically linked to any clinically resembling corneal dystrophies with autosomal-dominant inheritance. Other common symptoms include blurred vision and sensitivity to light, a gritty feeling in one or both eyes, a discharge in one or both eyes that forms a crust during the night; and tearing. A corneal ulcer is an ocular emergency and should be diagnosed and treated by an ophthalmologist.

Minor corneal infections are commonly treated with anti-bacterial or anti-fungal eye drops. This condition is initially treated with a topical antibiotic ointment at night to help keep the epithelial cells attached to the cornea. Keratitis: Keratitis usually makes the eyes very painful and watery, bloodshot, and sensitive to light. The condition is often accompanied by blurred or hazy vision. Collagen cross-linking mimics the corneal stiffening which occurs naturally with ageing. If the patch of cornea with the recurrent abrasion is small, as it usually is, your eye may heal after a few hours. Some of the symptoms experienced may include: a sensation of a foreign body in the eye (this feeling sometimes develops a few hours later rather than immediately after the apparent injury); tearing of the eyes; blurred vision or distortion of vision; eye pain when exposed to a bright light; and spasm of the muscles surrounding the eye causing the individual to squint.

Retinitis pigmentosa: Each individual with retinitis pigmentosa may experience symptoms differently, depending upon the severity and progression of the condition. All procedures were performed using topical anaesthesia with 4% lidocaine. This layer, which is about five cells deep, is filled with thousands of tiny nerve endings that make the cornea extremely sensitive to pain when rubbed or scratched. If a corneal abrasion is not treated appropriately, scarring and ulceration of the corneal are possible. Sample size was calculated to detect a drop in agreement from 80 to 50% as a result of using telemedicine instead of face-to-face consultation (95% confidence interval, 80% power). A sandwich was used in case of deep stromal defects with endothelial decompensation or infiltration of the entire cornea. Healthcare professionals that deal with eye disorders include: opticians – they dispense glasses and do not diagnose eye problems and optometrists – they perform eye exams and may diagnose eye problems.

A six-generation family was studied. It had 44 affected individuals (26 female and 18 male), of which 37 were alive. The pedigree (Fig. 1) includes 171 individuals. An individual with eye or vision problems describes the location and duration of the symptoms, and then the doctor examines the eye, the area around it, and possibly other parts of the body, depending on the suspected cause. An eye examination usually includes refraction, a visual field testing, ophthalmoscopy, a slit lamp examination, and tonometry. A solution of 100% alcohol was diluted with sterile water to a 20% solution in a 1 ml syringe.

the second technique involves the use of ultraviolet light and riboflavin to increase the stiffness of the cornea by causing greater cross linking of collagen that gives the cornea most of its thickness. and P.F.) at the University Hospital in Linköping. For pain associated with infectious bacterial keratitis, use topical non-steroidal agents to provide analgesia, increase compliance and decrease the overall inflammatory response when used in conjunction with topical antibiotics. The 16 affected family members who were not examined were interviewed to obtain their medical history. Eleven of these had medical records that were collected. A general and specific ophthalmological medical history was obtained, including 35 non-affected family members, who were all interviewed. The microscope is called a slit lamp because it uses an intense line of light (or a slit) to illuminate the cornea, iris, lens, and the space between the iris and cornea.

For an abrasion, first examine the eyelid and the palpebral conjunctiva, ocular surface and fornices to rule out the presence of a foreign body. Visual acuity (VA) and refraction were measured, and recording of intraocular pressure was performed. Using a slit lamp or a special device called an ophthalmoscope, the doctor can examine the lens for signs of a cataract, glaucoma, or damage to the retina. The fundus was examined by indirect ophthalmoscopy. Until then, the individual will probably have difficulty focusing on close objects, while distance vision is generally less affected. Polymorphic satellite markers were amplified using polymerase chain reaction at optimized temperatures using fluorescent labelled primers (Thermo, Ulm, Germany) and were closely located to genes causing known autosomal-dominant corneal dystrophies (COL8A2, TGFBI, GSN, KRT3 and KRT12). Markers allocated on both sides of the genes were chosen to ensure that a crossing-over event did not interfere with the haplotypes (Table 2).

Subsequently, amplicons were analysed on an ABI310Prism automated sequencer (Applied Biosystems, Foster City, California, USA), and fragment lengths were defined using the Genotyper software, version 2.5 (Applied Biosystems). We report a new type of autosomal-dominant corneal dystrophy that is characterized by recurrent corneal erosions and frequent development of keloid-like opacities in the centre of the cornea. To support that this is not a previously described condition, we combined phenotype and genotype studies of the disorder. Generally, ACV-resistant HSV has a low virulence because of the loss or change in enzyme activity of the viral thymidine kinase [1, 2]. The pedigree showed a clear autosomal-dominant hereditary pattern with many affected family members. Differentiating between affected and non-affected was never difficult because of the distinct symptoms of the disorder. There was no association with any systemic disorder.
A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance - Hammar - 2008 - Acta Ophthalmologica

The sometimes protracted episodes of erosive symptoms in some patients are unusual, but these are well documented and do not differ from other diseases with RCE (Brown & Bron 1976). Through the action of small muscles (called the ciliary muscles), the lens becomes thicker to focus on nearby objects and thinner to focus on distant objects. In these instances, the visual acuity may be impaired severely if the pathogenic condition occurs in the pupillary area. 3. The keloid-like structures reduced vision to a varying degree and sometimes necessitated corneal grafting. Surgery: Surgical options to treat vision problems are available. Hormonal events, such as menstruation, pregnancy and menopause, have been identified as precipitating factors that aggravate the recurrent corneal erosions and increase their number (Brown & Bron 1976; Hope-Ross et al.

1994); many female members in our study confirmed this. Laser vision correction takes only about 15 minutes to complete. Most individuals see well enough to drive within 24 hours of their LASIK treatment. As the cornea shape deteriorates there is a significant change in the focusing power of the eye producing nearsightedness and astigmatism. Vision can be more clearly affected then as a result of Ulcus corneae; Sometimes the eye affected by the boil can go blind completely. Vitamin B complex treatment, once recommended by an ophthalmologist, was employed as an effective means to reduce symptoms and number of recurrences by parts of the family. First, the individual’s prescription is entered into a computer that controls the laser.

Interestingly, vitamin B complex treatment has also been used successfully to treat recurrent aphthous stomatitis (RAS), which is characterized by recurring ulcers in the oral mucosa (Wray et al. The epithelium is separated from the stroma, in part, by a membrane. 1991). Depending on the desired outcome of the surgery, small amounts of corneal tissue will be removed in order to change the focus of the eye. For the duration of the laser’s operation, the surgeon will closely monitor the eye through a surgical microscope to make sure the desired prescription has been achieved. The eyes will be light-sensitive for several days. 2006), although the precise role of vitamin B12 in the pathogenesis of RAS still remains to be determined (Volkov et al.

The major advantages of corneal flap creation are that healing is faster and that discomfort is greatly reduced. It is recommended by healthcare professionals to go directly home and sleep (or at least keep the eyes closed) for about four hours. Masking fluid fills the valleys in the irregular corneal surface and exposes the peaks to laser ablation. Keratoconus usually occurs during puberty, or shortly thereafter. It is important that children and adolescents who wear contact lenses have glasses to wear and that glasses are worn every day to give the eyes a chance to breathe. Ophthalmology 2000; 107: 1999–2005. In contrast, recurrences seem to be more frequent, if PK preceded AMT.

PRK is effective for patients with myopia and astigmatism. There is some controversy about the aetiology of EBMD: some authors believe that the dystrophy is of autosomal-dominant inheritance, while others regard it only as corneal degenerative changes (Labbé et al. 2006). Recently, mutations in the TGFBI gene have been found in families with an autosomal-dominant inheritance (Boutboul et al. 2006). Conjunctivitis: A doctor may prescribe antibiotic eyedrops, such as Neosporin®, if the infection is bacterial. The infection should clear within several days of starting treatment.

This mild discomfort diminished as the epithelium healed. Herpes keratitis is a viral infection of the eye caused by the herpes simplex virus, best known for causing cold sores. The phenotypic descriptions have mainly been brief (Berardi & Motolese 1938; Wales 1955; Holt 1956; Remler 1959; Legrand 1963; Shindo 1968; Bron & Burgess 1981). In the descriptions of autosomal-dominantly inherited diseases exhibiting recurrent erosions described by Franceschetti, Wales and others, no development of corneal opacifications was described; therefore, we concluded that the findings in our family did not belong to any specific dystrophy in the Franceschetti group of dystrophies. Another differential diagnosis is Salzmann’s nodular degeneration, which – unlike the present disease – usually has several asymmetrically and superficially distributed elevated, multiple grey- or bluish-white nodules located at corneal mid-periphery and typically associated with chronic uveitis or keratitis (Vannas et al. 1975). A disease with a remote likeness is the autosomal recessively inherited gelatinous drop-like corneal dystrophy, in which subepithelial nodular deposits develop in the first decade and later increase in number and depth to become raised yellow-grey gelatinous masses with minimal vascularization, blurred vision, photophobia and irritation (Vincent et al.

It may take up to two to three weeks from the time of infection for the virus to go away. Neither recessive inheritance nor multiple masses were found in the present family. Another disease phenotype with unaffected vision and corneal opacities is the corneal dystrophy described by Fagerholm et al. Xerophthalmia (Dry eye): In treating dry eye, the first thing to do is to remove or reduce the cause. In our family, only a few keloid-like subepithelial opacities developed in the centre of the cornea, and their appearance varied from subepithelial fibrosis to protruding keloid-like formations. The use of over-the-counter (OTC) artificial teardrops is the primary treatment for dry eye. caused no discomfort and were distributed in the first 0.5–1.0 mm of the peripheral cornea, deep in the stroma on the Descemet’s layer and in the central cornea located on the inside of the Bowman’s layer.

Patients with tyrosinaemia type II (Richner Hanhart syndrome) may present with ocular signs that include corneal clouding, pseudodendritic corneal lesions (usually bilateral), dendritic ulcers and (rarely) corneal or conjunctival plaques. The corneal manifestations of this disease are very similar to herpes simplex keratitis, but differ distinctly from the corneal opacities in our family. Moreover, biotinidase deficiency and tyrosinaemia type II are conditions with autosomal recessive inheritance, but in our family the inheritance is autosomal-dominant. Genetically we excluded linkage to the genes TGFBI, GSN, KRT3, KRT12 and COL8A2, which have been described as harbouring mutations in patients with autosomal-dominant corneal dystrophies originating in all corneal layers (Klintworth 2003). Recurrent corneal erosions occur following dystrophies originating in all corneal layers, including the endothelium (e.g. Fuchs dystrophy) (Brown & Bron 1976; Hope-Ross et al. 1994).

To strengthen the analysis and rule out dystrophies with autosomal-dominant inheritance and the specific dystrophies mentioned earlier, a haplotype analysis was performed with genetic markers to exclude linkage to any of the described known genes causing autosomal-dominantly inherited corneal dystrophies (Klintworth 2003). Therefore, the present family has a disease that most likely is a separate entity.

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