1) Mutations at the Pax-6 Locus are Found in Anterior Segment Malformations including Peter's Anomaly. Hanson, Fletcher, et al. Nature Genetics, February, 1994.

In this article the authors have found that mutation or deletion of the Pax-6 gene has been noted in many cases of aniridia. They discovered the same mutations in a child with Peter's anomaly and in effected members of a family with a child with Peter's anomaly. Their conclusions are that the Pax-6 gene may be a candidate gene for aniridia and may be associated with a variety of congenital anterior segment anomalies.

2) Vitreous Hemorrhage in Infants. Ferrone and DeJuan. Archives of Ophthalmology, September, 1994.

The authors present 6 infants with vitreous hemorrhages. Vitrectomies were performed on each patient. One of the key points of the paper is that all the infants with vitreous hemorrhage developed serious sequelae. From this study it would appear that an infant that developed a significant vitreous hemorrhage after anterior segment surgery might require a pars plana vitrectomy within 3-4 weeks if there is no evidence of clearing.

3) Penetrating Keratoplasty in Infants with Congenital Glaucoma. Ariyasu, et al. Cornea, No. 6, 1994.

The authors retrospectively reviewed 6 infants with congenital glaucoma who had penetrating keratoplasties. Nine operations were performed on 8 eyes in 6 infants. Most of the grafts (6 of the 9) remained clear and 6 of the 8 patients developed ambulatory vision. Generally interrupted sutures are used and most of them were removed within an average of two months after surgery (a range of 6 weeks to 31/2months). One of the grafts failed due to phthisis and one failed due to graft rejection. The authors conclude that children who present with cloudy corneas due to congenital glaucoma can have successful corneal transplants especially if a dedicated caretaker is present.

4) Results of Penetrating Keratoplasty in CHED. Sajjadi, et al. Cornea, No. 1, 1995.

The authors presented 37 eyes of 21 patients with CHED that underwent penetration A keratoplasty. Surgery went well in most of the patients. There was less than an 8% rejection rate and 92% of the grafts remained clear. Vision was generally very good but never perfect. Amblyopia was the usual cause of less than perfect vision. Interrupted sutures were used in all children under the age of 8 and they were removed within 3 months after surgery. Another key point of the article is that CHED is sometimes confused with congenital glaucoma. The authors emphasize that in infants with bilateral cloudy corneas, a normal intraocular pressure and a normal corneal diameter, congenital glaucoma is unlikely and CHED would be a better diagnosis.

5) Peter's Anomaly: Associated Congenital Malformations and Etiology. Young, Fernhoff and Stulting. ARVO Poster Presentation, 1995.

The authors surprisingly found that 75% of their patients with Peter's anomaly had associated ocular or systemic malformations. They suggest that Peter's anomaly may be part of a more global disease.

6) Keratoplasty in Peter's Anomaly. Santander & Stark. ARVO Poster Presentation, 1995.

The authors retrospectively studied 10 patients with Peter's anomaly. In the 10 patients 18 eyes underwent 32 keratoplasties. The authors generally obtained poor results. All the patients developed glaucoma. Many of the patients required two keratoplasties. Final visual acuity was generally light perception in most eyes. The authors also had a very high incidence of corneal ulcers with nearly 1 out of 4 eyes developing a corneal ulcer. The results are significantly worse than has been reported by other authors. It is not clear from the poster why there was such a high incidence of corneal ulcers.

7) Outcome of Penetrating Keratoplasty for Ocular Trauma in Children. Dana, et al. ARVO Poster Presentation, 1995.

The authors presented 22 cases of children who had experienced corneal injuries; 27 keratoplasties were performed in these 22 patients. Most of the eyes were aphakic or amblyopic and many had glaucoma prior to the keratoplasty. More than 70% of the grafts remained clear two years after surgery. Most of the patients had much better post-operative vision than preoperatively. The authors felt that penetrating keratoplasties can be successfully performed in traumatized eyes of children but that the visual outcome is limited by amblyopia and by the degree of preoperative ocular damage.

8) Congenital Hereditary Endothelial Dystrophy Associated with Glaucoma.

Mullaney, et al. Ophthalmology February, 1995.

The authors had 3 cases of infants with opaque corneas that were clinically consistent with CHED. Each patient also had glaucoma. Glaucoma surgery was initially performed. The corneas did not clear. A keratoplasty was done and pathologic examination of the corneal button was diagnostic for CHED. The authors emphasize that when an infant with opaque corneas, a normal axial length and elevated intraocular pressure does not have corneal clearing after restoration of normal intraocular pressure, the diagnosis of CHED should be considered.

9) Growth of the Internal and External Eye in Term and Preterm. Infants. Isenberg, et al. Ophthalmology May, 1995.

This is an interesting article that studied 101 healthy preterm and term newborns to determine axial length and other ocular measurements. At term the mean axial length was 16.2mm. This is similar to what has been previously reported. (Other authors have reported lengths between 16.2 to 17.0mm.)

10) Penetrating Keratoplasty for Congenital Hereditary Endothelial Dystrophy. Al-Raghi and Wagoner. Poster Presentation, American Academy of Ophthalmology October, 1995.

The authors presented a poster about their experience with congenital hereditary endothelial dystrophy in Saudi Arabia. The vast majority of children were more than 7 years old. Most of the eyes achieved better than 20/200 vision. Only a few eyes achieved visual acuity of greater than 20/40. Other details were lacking.

11) Outcome of Penetrating Keratoplasty After Ocular Trauma in Children. MR Dana, et al. Archives of Ophthalmology, December, 1995. (See article 7.)

The authors presented the outcome of penetrating keratoplasty after ocular trauma in children. This was a multicenter retrospective study. Twenty-two children underwent 25 corneal transplants for corneal or corneo-scleral trauma. The graft survival rate was quite high, but children with more severe ocular trauma (especially those with posterior segment injuries) had a lower probability of graft survival. Visual acuity improved in the vast majority of the children. Children who received early amblyopia treatment had better final acuities. There was a high incidence of graft rejection episodes (36%) but half of these corneas survived. The most important findings are that children who require corneal grafts for corneal trauma do nearly as well as adults in terms of graft clarity. However, to increase the rate of visual success, the transplant should be done before significant amblyopia develops.

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CASE REPORT

The patient was born on August 17, 1995, two weeks premature to a Caesarian section. Both parents were healthy. The pregnancy had been uneventful. Other than the eye findings, the patient was a totally normal child. Shortly after birth, the patient's ophthalmologist noted a very microphthalmic right eye. The left eye appeared to be slightly small. In the left eye a corneal opacity was present involving the superonasal peripheral cornea and some of the central cornea. The intraocular pressure (IOP) of the left eye using the tonopen was in the fifties. A B-scan ultrasound of the eye was normal. The patient underwent a mitomycin trabeculectomy and the IOP decreased to 30mm.

The patient was referred to the cornea service in mid-September, 1995. The right eye was microphthalmic. The left eye had a peripheral corneal opacity with an inferior iris coloboma (Figure). The lens appeared to be clear. We decided to wait until the patient was 10 weeks of age before proceeding with corneal transplant surgery. While waiting for the donor tissue, the IOP was monitored by his referring doctor. He reported that the IOP dropped to the mid-twenties by using Betaxolol.

As the eye grew, it appeared that the corneal opacity was not increasing in size as quickly as the remainder of the eye. Therefore on January 4, 1996 the patient underwent an examination under anesthesia (EUA) and an optical iridectomy of the left eye. During the EUA the corneal diameter was 9mm and the intraocular pressure (with the pneumotometer) was 34mm. The iridectomy was performed by using a spatula to separate the adhesions between the patient's iris and the posterior aspect of the corneal opacity and then excising the superotemporal iris. At the end of the procedure we had a clear view of the fundus through the temporal cornea. The fundus was normal with a 0.3 cup to disc ratio. postoperatively the patient was treated with topical corticosteroids, antibiotics, phenylephrine, betaxo1ol and dorzolamide. On his most recent exam, the patient avoided light in his left eye and the corneal opacity had not changed. A good view of the fundus could be seen through the peripheral cornea and the intraocular pressure was 21 mm.

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RELATED GROUPS

The third Cedars-Sinai Conference on "Genetic Disease and the Eye" was held in Los Angeles on Saturday, January 30, 1996. This conference was designed to focus on the genetic aspects of ocular disease and genetic diseases affecting the eye. It is designed to span inter-disciplinary lines in ophthalmology, pediatrics and genetics. This course is organized by Yaron S. Rabinowitz, M.D., Director of the Ocular Genetics Research Program at Cedars-Sinai Medical Center.

Topics covered in the first half of the course included computer databases for genetic diseases, Downs Syndrome, Neurofibromatosis, craniofacial disorders and connective tissue disorders affecting the eye. The second half of the conference focused on the cornea covering topics such as congenital corneal opacities, homeobox genes, mapping of corneal dystrophy genes and keratoconus. Guest speakers on these topics included Dr. Edward Cother, formerly of Yale University, Dr. Paolo Nucci, of San Raffael University in Milan, Italy; Dr. Sandy Feldman of the University of California, San Diego; Dr. Kent Small of the Jules Stein Institute, Los Angeles, California and Dr. Gordon Klintworth of Duke University.

Case studies of patients with Fraser crytophthalmos who were successfully visually rehabilitated were illustrated as were cases of Peter's anomaly that were successfully managed by optical iridectomy. There was a discussion of the role of homeobox genes. The Pax-6 gene (a homeobox gene) has been shown to be responsible for controlling the embryological development of parts of the eye. Mutations in this gene have been found in families of patients with aniridia as well as patients with Peter's anomaly. It appears that Peter's anomaly, Axenfeld's anomaly, Reiger's anomaly and aniridia may all result from a defect in this controlling (homeobox) gene.

The gene loci for some corneal dystrophies have been mapped (see table), as outlined by Dr. Klintworth. Ultimately it may be possible to devise gene therapy for these disorders. The one dystrophy for which the gene is yet to be mapped is keratoconus.

Future courses on genetic disease in the eye are to be held every other. year at Cedars-Sinai. They will focus on progress in identifying corneal dystrophy genes, homeobox genes, gene therapy and advances in surgical approaches to congenital anomalies of the eye.

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